Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction.
A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.
Visible accumulations of fluid within or beneath the epidermis.
A cytoskeletal linker protein with a molecular weight of greater than 500 kDa. It binds INTERMEDIATE FILAMENTS; MICROTUBULES; and ACTIN CYTOSKELETON and plays a central role in the organization and stability of the CYTOSKELETON. Plectin is phosphorylated by CALMODULIN KINASE; PROTEIN KINASE A; and PROTEIN KINASE C.
A type I keratin that is found associated with the KERATIN-5 in the internal stratified EPITHELIUM. Mutations in the gene for keratin-14 are associated with EPIDERMOLYSIS BULLOSA SIMPLEX.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
The region of the STOMACH at the junction with the DUODENUM. It is marked by the thickening of circular muscle layers forming the pyloric sphincter to control the opening and closure of the lumen.
A family of structurally-related short-chain collagens that do not form large fibril bundles.
Also known as CD104 antigen, this protein is distinguished from other beta integrins by its relatively long cytoplasmic domain (approximately 1000 amino acids vs. approximately 50). Five alternatively spliced isoforms have been described.
An anchoring junction of the cell to a non-cellular substrate, similar in morphology to halves of DESMOSOMES. They are composed of specialized areas of the plasma membrane where INTERMEDIATE FILAMENTS bind on the cytoplasmic face to the transmembrane linkers, INTEGRINS, via intracellular attachment proteins, while the extracellular domain of the integrins binds to EXTRACELLULAR MATRIX PROTEINS.
A type II keratin that is found associated with the KERATIN-14 in the internal stratified EPITHELIUM. Mutations in the gene for keratin-5 are associated with EPIDERMOLYSIS BULLOSA SIMPLEX.
A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION.
Genes that influence the PHENOTYPE only in the homozygous state.
Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)
Epidermal cells which synthesize keratin and undergo characteristic changes as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.
A family of non-fibrillar collagens that interact with FIBRILLAR COLLAGENS. They contain short triple helical domains interrupted by short non-helical domains and do not form into collagen fibrils.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
A darkly stained mat-like EXTRACELLULAR MATRIX (ECM) that separates cell layers, such as EPITHELIUM from ENDOTHELIUM or a layer of CONNECTIVE TISSUE. The ECM layer that supports an overlying EPITHELIUM or ENDOTHELIUM is called basal lamina. Basement membrane (BM) can be formed by the fusion of either two adjacent basal laminae or a basal lamina with an adjacent reticular lamina of connective tissue. BM, composed mainly of TYPE IV COLLAGEN; glycoprotein LAMININ; and PROTEOGLYCAN, provides barriers as well as channels between interacting cell layers.
Congenital structural abnormalities of the DIGESTIVE SYSTEM.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Filaments 7-11 nm in diameter found in the cytoplasm of all cells. Many specific proteins belong to this group, e.g., desmin, vimentin, prekeratin, decamin, skeletin, neurofilin, neurofilament protein, and glial fibrillary acid protein.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).
Synthetic material used for the treatment of burns and other conditions involving large-scale loss of skin. It often consists of an outer (epidermal) layer of silicone and an inner (dermal) layer of collagen and chondroitin 6-sulfate. The dermal layer elicits new growth and vascular invasion and the outer layer is later removed and replaced by a graft.
Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)
Endogenous tissue constituents that have the ability to interact with AUTOANTIBODIES and cause an immune response.
Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.
A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis.
Cytoplasmic filaments intermediate in diameter (about 10 nanometers) between the microfilaments and the microtubules. They may be composed of any of a number of different proteins and form a ring around the cell nucleus.
A scleroprotein fibril consisting mostly of type III collagen. Reticulin fibrils are extremely thin, with a diameter of between 0.5 and 2 um. They are involved in maintaining the structural integrity in a variety of organs.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)
The scroll-like bony plates with curved margins on the lateral wall of the NASAL CAVITY. Turbinates, also called nasal concha, increase the surface area of nasal cavity thus providing a mechanism for rapid warming and humidification of air as it passes to the lung.
Large, noncollagenous glycoprotein with antigenic properties. It is localized in the basement membrane lamina lucida and functions to bind epithelial cells to the basement membrane. Evidence suggests that the protein plays a role in tumor invasion.
This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A metalloproteinase which degrades helical regions of native collagen to small fragments. Preferred cleavage is -Gly in the sequence -Pro-Xaa-Gly-Pro-. Six forms (or 2 classes) have been isolated from Clostridium histolyticum that are immunologically cross-reactive but possess different sequences and different specificities. Other variants have been isolated from Bacillus cereus, Empedobacter collagenolyticum, Pseudomonas marinoglutinosa, and species of Vibrio and Streptomyces. EC 3.4.24.3.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
An integrin alpha subunit that primarily associates with INTEGRIN BETA1 or INTEGRIN BETA4 to form laminin-binding heterodimers. Integrin alpha6 has two alternatively spliced isoforms: integrin alpha6A and integrin alpha6B, which differ in their cytoplasmic domains and are regulated in a tissue-specific and developmental stage-specific manner.
A water-soluble medicinal preparation applied to the skin.
An individual having different alleles at one or more loci regarding a specific character.
The external, nonvascular layer of the skin. It is made up, from within outward, of five layers of EPITHELIUM: (1) basal layer (stratum basale epidermidis); (2) spinous layer (stratum spinosum epidermidis); (3) granular layer (stratum granulosum epidermidis); (4) clear layer (stratum lucidum epidermidis); and (5) horny layer (stratum corneum epidermidis).
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
Biochemical identification of mutational changes in a nucleotide sequence.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
An individual in which both alleles at a given locus are identical.
Surface ligands, usually glycoproteins, that mediate cell-to-cell adhesion. Their functions include the assembly and interconnection of various vertebrate systems, as well as maintenance of tissue integration, wound healing, morphogenic movements, cellular migrations, and metastasis.
Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
'Mouth diseases' is a broad term referring to various conditions that cause inflammation, infection, or structural changes in any part of the mouth, including the lips, gums, tongue, palate, cheeks, and teeth, which can lead to symptoms such as pain, discomfort, difficulty in chewing or speaking, and altered aesthetics.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
An infant during the first month after birth.
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.
Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.

The eye in epidermolysis bullosa. (1/143)

AIMS: To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB) patients managed in one large specialist centre. METHODS: A case note review of consecutive patients seen at Great Ormond Street Children's Hospital. Data on the dermatological disease, ophthalmic history, and examination were collected and coded onto a data sheet. RESULTS: 181 patients: 50 (28%) simplex EB; 15 (8%) junctional EB; 28 (15%) autosomal dominant dystrophic EB; 72 (40%) autosomal recessive dystrophic EB; nine patients (5%) with dystrophic EB whose inheritance could not be ascertained; and seven cases (4%) of EB that could not be classified. Ocular problems were found in 12% (n = 6) of simplex patients and 40% (n = 6) of those with junctional disease. One patient (of 28) in the autosomal dominant dystrophic group had ocular involvement and 51% (37/72) of patients in the autosomal recessive dystrophic group had ophthalmic complications: corneal (25/72), lid ectropions (3/72), lid blisters (5/72), and symblepharon (3/72). CONCLUSION: Ophthalmic complications are common in EB overall but the incidence varies widely with subtype. Ophthalmic complications are the most severe in the dystrophic recessive and junctional subtypes where there is a need for extra vigilance. The major treatment modality was use of ocular lubricants.  (+info)

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. (2/143)

Epidermolysis bullosa (EB) with late-onset muscular dystrophy (EB-MD) is a hemidesmosomal variant of EB due to mutations in the plectin gene (PLEC1). The age of onset of muscle involvement has been noted to vary from infancy to the fourth decade of life. Immunofluorescence of the patients' skin and muscle biopsies is usually negative for staining with antibodies recognizing plectin, a large cytoskeleton-associated anchorage protein. In this study we report novel plectin mutations in two families with EB. In both families, the proband was a newborn with neonatal blistering with no evidence for muscle weakness as yet. Peripheral blood DNA was isolated and examined by heteroduplex scanning strategy, protein truncation test (PTT), and/or direct sequencing of the plectin gene. One of the probands was compound heterozygote for nonsense mutations E2005X/K4460X, and the proband in the second family was compound heterozygote for deletion mutations 5083delG/2745-9del21, the latter mutation extending from -9 to +12 at the intron 22/exon 23 border. The mutations K4460X and 5083delG were not present in either one of the parents, thus being de novo events. In both cases, nonpaternity was excluded by microsatellite marker analysis. The stop codon mutations are predicted to result in the synthesis of a truncated protein lacking the carboxy-terminal globular domain of the protein and possibly causing nonsense-mediated decay of the corresponding mRNA. The 2745-9del21 deletion mutation abolishes the splice site at the intron 22/exon 23 junction, predicting abnormal splicing events. Because plectin deficiency is associated with muscular dystrophy, molecular diagnostics of the plectin gene provides prognostic value in evaluation of these patients who appear to be at risk to develop muscular dystrophy.  (+info)

Rudimentary hemidesmosome formation in congenital generalized junctional epidermolysis bullosa in the Sprague-Dawley rat. (3/143)

Seven of 14 newborn pups in a litter of Sprague-Dawley rats were found to have generalized detachment of the epidermis, which was thin, wrinkled, and hung in loose folds over distal extremities. Histologic and ultrastructural examination of the skin showed noninflammatory separation of the epidermis from the dermis at the lamina lucida of the basement membrane zone. Ultrastructurally, hemidesmosomes were small and had a rudimentary appearance; keratin tonofilaments in basal keratinocytes were detached from the hemidesmosomes. The skin lesions were consistent with generalized junctional epidermolysis bullosa, which has not previously been reported in the rat. In humans, generalized junctional epidermolysis bullosa is most commonly caused by autosomal recessive inheritance of defective proteins of the hemidesmosomes or anchoring filaments. The specific protein defect involved in the rat lesion was not determined because fresh frozen tissue was not available.  (+info)

Deposition of laminin 5 by keratinocytes regulates integrin adhesion and signaling. (4/143)

Deposition of laminin 5 over exposed dermal collagen in epidermal wounds is an early event in repair of the basement membrane. We report that deposition of laminin 5 onto collagen switches adhesion and signaling from collagen-dependent to laminin 5-dependent. Ligation of laminin 5 by integrin alpha(6)beta(4) activates phosphoinositide 3-OH-kinase (PI3K) signaling. This activation allows for adhesion and spreading via integrin alpha(3)beta(1) on laminin 5 independent of RhoGTPase, a regulator of actin stress fibers. In contrast, adhesion and spreading on collagen via alpha(2)beta(1) is Rho-dependent and is inhibited by toxin B, a Rho inhibitor. Deposition of laminin 5 and ligation of alpha(6)beta(4) increases PI3K-dependent production of phosphoinositide di- and triphosphates, PI3K activity, and phosphorylation of downstream target protein c-Jun NH(2)-terminal kinase. Conversely, blocking laminin 5-deposition with brefeldin A, an inhibitor of vesicle transport, or with anti-laminin 5 monoclonal antibodies abolishes the PI3K-dependent spreading mediated by alpha(3)beta(1) and phosphorylation of c-Jun NH(2)-terminal kinase. Studies with keratinocytes lacking alpha(6)beta(4) or laminin 5 confirm that deposition of laminin 5 and ligation by alpha(6)beta(4) are required for PI3K-dependent spreading via alpha(3)beta(1). We suggest that deposition of laminin 5 onto the collagen substratum, as in wound repair, enables human foreskin keratinocytes to interact via alpha(6)beta(4) and to switch from a RhoGTPase-dependent adhesion on collagen to a PI3K-dependent adhesion and spreading mediated by integrin alpha(3)beta(1) on laminin 5.  (+info)

Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. (5/143)

Defects of collagen XVII, a keratinocyte adhesion protein, are associated with epidermal detachment in junctional epidermolysis bullosa. Although some missense mutations in the collagen XVII gene COL17A1 have been described, the molecular mechanisms leading to disease have remained elusive in these cases. Here we assessed the biologic consequences of a missense mutation by studying the folding and stability of wild-type and mutated recombinant collagen XVII domains. The mutation occurred in a junctional epidermolysis bullosa patient who was compound heterozygous for the novel glycine substitution mutation G633D and the novel nonsense mutation R145X. Collagen XVII mRNA was significantly reduced, indicating nonsense-mediated mRNA degradation and hemizygosity of the patient for the G633D substitution. As glycine residues within the collagen triple helices are important for stable conformation, the thermal stability of the wild-type and mutated eukaryotic recombinant Col15 domain of collagen XVII was assessed. The stability of the mutated fragment was clearly reduced. The midpoint of the helix-to-coil transition, Tm, was 5 degrees C lower than that of wild-type rCol15, indicating abnormal triple-helix folding and susceptibility to proteolysis. Consistently, immunoassays demonstrated reduced amounts of the full-length collagen XVII and absence of the soluble ectodomain in keratinocyte cultures, and lack of the ectodomain from the junctional epidermolysis bullosa skin. These observations show that the glycine substitution G633D in collagen XVII causes abnormal folding and susceptibility to degradation, and thus perturbs the physiologic adhesive functions of collagen XVII in the skin.  (+info)

Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa. (6/143)

An autosomal recessive disorder, generalized atrophic benign epidermolysis bullosa, is a rare form of nonlethal type junctional epidermolysis bullosa. It is associated not only with skin fragility but also with other unique clinical features including widespread atrophic skin changes, alopecia, reduced axillary and pubic hair, dysplastic teeth, and dystrophic nails. The majority of generalized atrophic benign epidermolysis bullosa cases are caused by mutations in the COL17A1 gene coding for type XVII collagen (or the 180 kDa bullous pemphigoid antigen). Another candidate gene for mutations in some forms of generalized atrophic benign epidermolysis bullosa is LAMB3 encoding the beta3 chain of laminin 5. This report documents compound heterozygosity for novel mutations in LAMB3 of a Japanese patient showing typical clinical features of generalized atrophic benign epidermolysis bullosa. One is an A-to-G transversion at the splice acceptor site of intron 14, which is designated as a 1977-2A-->G mutation; the other is a deletion of 94 bp located at the junction of intron 18 and exon 19, which is a 2702-29del94 mutation. Reverse transcriptase polymerase chain reaction analysis suggested skipping of exon 19 in LAMB3 mRNA produced from the allele with 2702-29del94 and impaired stability of the aberrant mRNA transcribed from the second allele with the 1977-2A-->G mutation.  (+info)

Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation. (7/143)

Laminin 5, the major keratinocyte adhesion ligand, is found in the lamina lucida subregion of the epidermal basement membrane of the skin, where it colocalizes with the anchoring filaments. Mutations in the genes encoding laminin 5 cause junctional epidermolysis bullosa, an inherited skin blistering disease characterized by abnormal hemidesmosomes and cleavage of the lamina lucida leading to epidermal detachment. In this work we describe the genetic basis of a new subtype of lethal inherited epidermolysis bullosa associated with reduced skin reactivity to laminin 5, presence of mature hemidesmosomes, and intradermal cleavage of the skin. The epidermolysis bullosa patients were heterozygous for a nonsense mutation (Q896X) and a splice site mutation (764-10T-->G) in the gene (LAMC2) for the gamma2 chain of laminin 5. The nonsense mutation causes accelerated decay of the corresponding mRNA, while the splice site mutation results in maturation of a cryptic wild-type gamma2 mRNA leading to reduced expression of wild-type laminin 5. In vitro studies using the probands' keratinocytes showed that secretion of reduced amounts of functional laminin 5 in the patient, although permitting formation of hemidesmosomes, fail to restore efficient cell adhesion. Our results provide the first evidence that laminin 5 contributes to the firm adhesion of the epithelial basement membrane to the underlying stroma. They also show that a low expression level of laminin 5 induces assembly of mature hemidesmosomes in vivo but fails to assure a stable cohesion of the dermal-epidermal junction.  (+info)

The short arm of the laminin gamma2 chain plays a pivotal role in the incorporation of laminin 5 into the extracellular matrix and in cell adhesion. (8/143)

Laminin 5 is a basement membrane component that actively promotes adhesion and migration of epithelial cells. Laminin 5 undergoes extracellular proteolysis of the gamma2 chain that removes the NH(2)-terminal short arm of the polypeptide and reduces the size of laminin 5 from 440 to 400 kD. The functional consequence of this event remains obscure, although lines of evidence indicate that cleavage of the gamma2 chain potently stimulated scattering and migration of keratinocytes and cancer cells. To define the biological role of the gamma2 chain short arm, we expressed mutated gamma2 cDNAs into immortalized gamma2-null keratinocytes. By immunofluorescence and immunohistochemical studies, cell detachment, and adhesion assays, we found that the gamma2 short arm drives deposition of laminin 5 into the extracellular matrix (ECM) and sustains cell adhesion. Our results demonstrate that the unprocessed 440-kD form of laminin 5 is a biologically active adhesion ligand, and that the gamma2 globular domain IV is involved in intermolecular interactions that mediate integration of laminin 5 in the ECM and cell attachment.  (+info)

Epidermolysis Bullosa (EB) is a group of rare inherited skin disorders that are characterized by the development of blisters, erosions, and scarring following minor trauma or friction. The condition results from a genetic defect that affects the structural proteins responsible for anchoring the epidermis (outer layer of the skin) to the dermis (inner layer of the skin).

There are several types of EB, which vary in severity and clinical presentation. These include:

1. Epidermolysis Bullosa Simplex (EBS): This is the most common form of EB, and it typically affects the skin's superficial layers. Blistering tends to occur after minor trauma or friction, and healing usually occurs without scarring. There are several subtypes of EBS, which vary in severity.
2. Junctional Epidermolysis Bullosa (JEB): This form of EB affects the deeper layers of the skin, and blistering can occur spontaneously or following minor trauma. Healing often results in scarring, and affected individuals may also experience nail loss, dental abnormalities, and fragile mucous membranes.
3. Dystrophic Epidermolysis Bullosa (DEB): DEB affects the deeper layers of the skin, and blistering can lead to significant scarring, contractures, and fusion of fingers and toes. There are two main subtypes of DEB: recessive DEB (RDEB), which is more severe and associated with a higher risk of skin cancer, and dominant DEB (DDEB), which tends to be milder.
4. Kindler Syndrome: This is a rare form of EB that affects both the epidermis and dermis. Blistering can occur spontaneously or following minor trauma, and affected individuals may experience photosensitivity, poikiloderma (a mottled skin appearance), and oral and gastrointestinal abnormalities.

Treatment for EB typically focuses on managing symptoms, preventing blister formation and infection, and promoting wound healing. There is currently no cure for EB, but research is ongoing to develop new therapies and treatments.

Epidermolysis Bullosa Dystrophica (EBD) is a type of inherited skin disorder that belongs to the group of conditions known as Epidermolysis Bullosa. This condition is characterized by the development of fragile, blistering skin that can be caused by minor trauma or friction.

In EBD, the blisters form in the upper layer of the skin (epidermis) and the underlying layer (dermis), leading to scarring and tissue damage. The symptoms of EBD can range from mild to severe and may include:

* Blistering of the skin that can be triggered by friction, heat, or other factors
* Formation of scars, particularly on the hands and feet
* Thickening of the skin (hyperkeratosis)
* Nail abnormalities, such as ridged or brittle nails
* Mouth sores and blisters
* Dental problems, including tooth decay and gum disease

EBD is caused by mutations in the genes that provide instructions for making proteins that help to anchor the skin's layers together. As a result, the skin becomes fragile and prone to blistering.

There are several subtypes of EBD, each with its own specific genetic cause and symptoms. Treatment typically involves wound care, prevention of infection, and management of pain. In severe cases, surgery may be necessary to treat complications such as scarring or contractures.

Epidermolysis Bullosa Simplex (EBS) is a group of genetic skin disorders characterized by the development of blisters and erosions on the skin following minor trauma or friction. It is caused by mutations in genes that encode proteins responsible for anchoring the epidermis (outer layer of the skin) to the dermis (inner layer of the skin).

There are several subtypes of EBS, which vary in severity and clinical presentation. The most common form is called "Dowling-Meara" EBS, which is characterized by blistering at or near birth, widespread blistering, and scarring. Other forms of EBS include "Weber-Cockayne" EBS, which is characterized by localized blistering and healing with minimal scarring, and "Kobner" EBS, which is characterized by blistering in response to heat or physical trauma.

Treatment for EBS typically involves wound care, prevention of infection, and pain management. In some cases, protein therapy or bone marrow transplantation may be considered as a treatment option. It's important to note that the prognosis for individuals with EBS varies depending on the severity and subtype of the disorder.

Junctional Epidermolysis Bullosa (JEB) is a rare genetic skin disorder characterized by the presence of blisters and erosions on the skin and mucous membranes. It results from a defect in one of the proteins that anchors the epidermis (the outermost layer of the skin) to the dermis (the underlying layer of connective tissue). This defect causes the layers to separate easily, leading to blistering with minor friction or trauma.

JEB is usually apparent at birth or within the first few months of life. The severity of the condition can vary widely, even among members of the same family. There are several subtypes of JEB, each caused by mutations in different genes. These include:

1. Herlitz JEB: This is the most severe form, often lethal in infancy. It's characterized by widespread blistering over the entire body, including the mucous membranes, and severe growth retardation.

2. Non-Herlitz JEB: Less severe than Herlitz JEB, this form can still cause significant disability. Blistering tends to be localized to specific areas of the body, such as the hands, feet, and knees.

3. JEB with Pyloric Atresia: This subtype includes gastrointestinal abnormalities like pyloric atresia (a blockage in the lower part of the stomach), in addition to skin fragility.

Treatment for JEB typically focuses on managing symptoms and preventing complications. This may involve wound care, prevention of infection, pain management, nutritional support, and physical therapy. There is currently no cure for JEB.

Epidermolysis Bullosa Acquisita (EBA) is a rare autoimmune blistering disorder characterized by the production of autoantibodies against type VII collagen, a protein that plays a crucial role in anchoring the epidermis to the dermis. This results in the formation of blisters and erosions on the skin and mucous membranes, particularly in areas subjected to friction or trauma.

EBA can be classified into two main forms: the mechanobullous form and the inflammatory form. The mechanobullous form is characterized by spontaneous blistering and mechanical fragility of the skin, while the inflammatory form presents with inflammation and erosions in the mucous membranes.

The onset of EBA can occur at any age, but it is more common in adults, particularly those over 40 years old. The diagnosis of EBA is based on clinical presentation, direct immunofluorescence (DIF) studies, and detection of autoantibodies against type VII collagen.

Treatment of EBA typically involves a combination of wound care, prevention of infection, and immunosuppressive therapy to control the production of autoantibodies. The prognosis of EBA varies depending on the severity and extent of skin and mucous membrane involvement, as well as the response to treatment.

Collagen type VII is a type of collagen that is a major component of the anchoring fibrils, which are structures that help to attach the epidermis (the outermost layer of the skin) to the dermis (the layer of skin directly below the epidermis). Collagen type VII is composed of three identical chains that are encoded by the COL7A1 gene. Mutations in this gene can lead to a group of inherited blistering disorders known as autosomal recessive dystrophic epidermolysis bullosa, which is characterized by fragile skin and mucous membranes that blister and tear easily, often from minor trauma or friction.

A blister is a small fluid-filled bubble that forms on the skin due to friction, burns, or contact with certain chemicals or irritants. Blisters are typically filled with a clear fluid called serum, which is a component of blood. They can also be filled with blood (known as blood blisters) if the blister is caused by a more severe injury.

Blisters act as a natural protective barrier for the underlying skin and tissues, preventing infection and promoting healing. It's generally recommended to leave blisters intact and avoid breaking them, as doing so can increase the risk of infection and delay healing. If a blister is particularly large or painful, medical attention may be necessary to prevent complications.

Plectin is a large cytolinker protein that plays a crucial role in the structural organization and stability of the cell. It has the ability to interact with various components of the cytoskeleton, including intermediate filaments, microtubules, and actin filaments, thereby providing a critical link between these structures. Plectin is widely expressed in many tissues and is involved in maintaining the integrity and functionality of cells under both physiological and pathological conditions. Mutations in the gene encoding plectin have been associated with several human diseases, including epidermolysis bullosa, muscular dystrophy, and neuropathies.

Keratin-14 is a type of keratin protein that is specifically expressed in the suprabasal layers of stratified epithelia, including the epidermis. It is a component of the intermediate filament cytoskeleton and plays an important role in maintaining the structural integrity and stability of epithelial cells. Mutations in the gene encoding keratin-14 have been associated with several genetic skin disorders, such as epidermolysis bullosa simplex and white sponge nevus.

In medical terms, the skin is the largest organ of the human body. It consists of two main layers: the epidermis (outer layer) and dermis (inner layer), as well as accessory structures like hair follicles, sweat glands, and oil glands. The skin plays a crucial role in protecting us from external factors such as bacteria, viruses, and environmental hazards, while also regulating body temperature and enabling the sense of touch.

The pylorus is the lower, narrow part of the stomach that connects to the first part of the small intestine (duodenum). It consists of the pyloric canal, which is a short muscular tube, and the pyloric sphincter, a circular muscle that controls the passage of food from the stomach into the duodenum. The pylorus regulates the entry of chyme (partially digested food) into the small intestine by adjusting the size and frequency of the muscular contractions that push the chyme through the pyloric sphincter. This process helps in further digestion and absorption of nutrients in the small intestine.

Non-fibrillar collagens are a type of collagen that do not form fibrous structures, unlike the more common fibrillar collagens. They are a group of structurally diverse collagens that play important roles in various biological processes such as cell adhesion, migration, and differentiation. Non-fibrillar collagens include types IV, VI, VIII, X, XII, XIV, XVI, XIX, XXI, and XXVIII. They are often found in basement membranes and other specialized extracellular matrix structures.

Type IV collagen is a major component of the basement membrane and forms a network-like structure that provides a scaffold for other matrix components. Type VI collagen has a beaded filament structure and is involved in the organization of the extracellular matrix. Type VIII collagen is found in the eyes and helps to maintain the structural integrity of the eye. Type X collagen is associated with cartilage development and bone formation. Type XII and XIV collagens are fibril-associated collagens that help to regulate the organization and diameter of fibrillar collagens. The other non-fibrillar collagens have various functions, including cell adhesion, migration, and differentiation.

Overall, non-fibrillar collagens are important structural components of the extracellular matrix and play critical roles in various biological processes.

Integrin beta4, also known as ITGB4 or CD104, is a type of integrin subunit that forms part of the integrin receptor along with an alpha subunit. Integrins are transmembrane proteins involved in cell-cell and cell-extracellular matrix (ECM) adhesion, signal transduction, and regulation of various cellular processes such as proliferation, differentiation, and migration.

Integrin beta4 is unique among the integrin subunits because it has a large cytoplasmic domain that can interact with several intracellular signaling molecules, making it an important regulator of cell behavior. Integrin beta4 is widely expressed in various tissues, including epithelial cells, endothelial cells, and hematopoietic cells.

Integrin beta4 forms heterodimers with integrin alpha6 to form the receptor for laminins, which are major components of the basement membrane. This receptor is involved in maintaining the integrity of epithelial tissues and regulating cell migration during development, tissue repair, and cancer progression. Mutations in ITGB4 have been associated with several human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering.

Hemidesmosomes are specialized structures found in the cell membranes of epithelial cells that help to anchor them to the underlying basement membrane. They are composed of several proteins, including integrins and collagen type XVII, which interact with both intracellular keratin filaments and extracellular matrix components such as laminin-332. Hemidesmosomes play a crucial role in maintaining the integrity and stability of epithelial tissues by providing strong adhesive bonds between the epithelial cells and the underlying basement membrane, which is essential for normal tissue function and homeostasis. Mutations in genes encoding hemidesmosomal proteins can lead to various inherited skin blistering disorders, such as epidermolysis bullosa.

Keratin 5 is a type of keratin protein that is primarily expressed in the basal layer of epithelial tissues, including the skin, hair follicles, and nails. It forms heterodimers with keratin 14 and plays a crucial role in maintaining the structural integrity and stability of these tissues. Mutations in the gene that encodes keratin 5 (KRT5) can lead to several genetic disorders, such as epidermolysis bullosa simplex, which is characterized by blistering of the skin and mucous membranes.

Keratins are a type of fibrous structural proteins that constitute the main component of the integumentary system, which includes the hair, nails, and skin of vertebrates. They are also found in other tissues such as horns, hooves, feathers, and reptilian scales. Keratins are insoluble proteins that provide strength, rigidity, and protection to these structures.

Keratins are classified into two types: soft keratins (Type I) and hard keratins (Type II). Soft keratins are found in the skin and simple epithelial tissues, while hard keratins are present in structures like hair, nails, horns, and hooves.

Keratin proteins have a complex structure consisting of several domains, including an alpha-helical domain, beta-pleated sheet domain, and a non-repetitive domain. These domains provide keratin with its unique properties, such as resistance to heat, chemicals, and mechanical stress.

In summary, keratins are fibrous structural proteins that play a crucial role in providing strength, rigidity, and protection to various tissues in the body.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Vesiculobullous skin diseases are a group of disorders characterized by the formation of blisters (vesicles) and bullae (larger blisters) on the skin. These blisters form when there is a separation between the epidermis (outer layer of the skin) and the dermis (layer beneath the epidermis) due to damage in the area where they join, known as the dermo-epidermal junction.

There are several types of vesiculobullous diseases, each with its own specific causes and symptoms. Some of the most common types include:

1. Pemphigus vulgaris: an autoimmune disorder where the immune system mistakenly attacks proteins that help to hold the skin together, causing blisters to form.
2. Bullous pemphigoid: another autoimmune disorder, but in this case, the immune system attacks a different set of proteins, leading to large blisters and inflammation.
3. Dermatitis herpetiformis: a skin condition associated with celiac disease, where gluten ingestion triggers an immune response that leads to the formation of itchy blisters.
4. Pemphigoid gestationis: a rare autoimmune disorder that occurs during pregnancy and causes blisters on the abdomen and other parts of the body.
5. Epidermolysis bullosa: a group of inherited disorders where there is a fragile skin structure, leading to blistering and wound formation after minor trauma or friction.

Treatment for vesiculobullous diseases depends on the specific diagnosis and may include topical or systemic medications, such as corticosteroids, immunosuppressants, or antibiotics, as well as wound care and prevention of infection.

Keratinocytes are the predominant type of cells found in the epidermis, which is the outermost layer of the skin. These cells are responsible for producing keratin, a tough protein that provides structural support and protection to the skin. Keratinocytes undergo constant turnover, with new cells produced in the basal layer of the epidermis and older cells moving upward and eventually becoming flattened and filled with keratin as they reach the surface of the skin, where they are then shed. They also play a role in the immune response and can release cytokines and other signaling molecules to help protect the body from infection and injury.

Fibril-Associated Collagens (also known as FACIT collagens) are a group of collagen proteins that are characterized by their association with the surface of collagen fibrils. They play a role in the organization, stability, and diameter regulation of collagen fibrils. These collagens include types XII, XIV, XVI, XIX, XXI, and XXII.

Type XII collagen is found in various tissues such as tendons, ligaments, skin, and cornea. It has a triple-helical domain that interacts with the surface of collagen fibrils and a non-collagenous domain that can bind to other extracellular matrix proteins.

Type XIV collagen is also found in various tissues and has a similar structure to type XII collagen, but it has a larger non-collagenous domain. It plays a role in regulating the diameter of collagen fibrils.

Type XVI collagen is primarily found in cartilage and has a unique structure with multiple interruptions in its triple-helical domain. It is involved in the regulation of collagen fibrillogenesis and may also have roles in cell adhesion and signaling.

Types XIX and XXI collagens are similar to each other and are found in various tissues, including skin, tendons, and blood vessels. They have a short triple-helical domain and large non-collagenous domains that contain multiple binding sites for other extracellular matrix proteins.

Type XXII collagen is primarily found in the cornea and has a similar structure to type XIX collagen. It plays a role in regulating the diameter of collagen fibrils and may also have roles in cell adhesion and signaling.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Desmosomes are specialized intercellular junctions that provide strong adhesion between adjacent epithelial cells and help maintain the structural integrity and stability of tissues. They are composed of several proteins, including desmoplakin, plakoglobin, and cadherins, which form complex structures that anchor intermediate filaments (such as keratin) to the cell membrane. This creates a network of interconnected cells that can withstand mechanical stresses. Desmosomes are particularly abundant in tissues subjected to high levels of tension, such as the skin and heart.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

The basement membrane is a thin, specialized layer of extracellular matrix that provides structural support and separates epithelial cells (which line the outer surfaces of organs and blood vessels) from connective tissue. It is composed of two main layers: the basal lamina, which is produced by the epithelial cells, and the reticular lamina, which is produced by the connective tissue. The basement membrane plays important roles in cell adhesion, migration, differentiation, and survival.

The basal lamina is composed mainly of type IV collagen, laminins, nidogens, and proteoglycans, while the reticular lamina contains type III collagen, fibronectin, and other matrix proteins. The basement membrane also contains a variety of growth factors and cytokines that can influence cell behavior.

Defects in the composition or organization of the basement membrane can lead to various diseases, including kidney disease, eye disease, and skin blistering disorders.

The digestive system is a complex series of organs and glands that process food. Abnormalities in the digestive system can refer to a wide range of conditions that affect any part of the system, including the esophagus, stomach, small intestine, large intestine, liver, pancreas, and gallbladder. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as infection, inflammation, injury, or disease.

Some examples of digestive system abnormalities include:

1. Gastroesophageal Reflux Disease (GERD): A condition where the stomach acid flows back into the esophagus, causing heartburn and damage to the esophageal lining.
2. Peptic Ulcers: Open sores that develop on the lining of the stomach or duodenum, often caused by bacterial infections or long-term use of nonsteroidal anti-inflammatory drugs (NSAIDs).
3. Inflammatory Bowel Disease (IBD): A group of chronic inflammatory conditions of the intestine, including Crohn's disease and ulcerative colitis.
4. Irritable Bowel Syndrome (IBS): A functional gastrointestinal disorder characterized by abdominal pain, bloating, and altered bowel habits.
5. Celiac Disease: An autoimmune disorder where the ingestion of gluten leads to damage in the small intestine.
6. Diverticulosis: The presence of small pouches or sacs that form on the lining of the intestine, which can become inflamed or infected (diverticulitis).
7. Hiatal Hernia: A condition where a portion of the stomach protrudes through the diaphragm into the chest cavity.
8. Hepatitis: Inflammation of the liver, often caused by viral infections or toxins.
9. Cirrhosis: A chronic liver disease characterized by scarring and loss of liver function, often due to long-term alcohol abuse or hepatitis.
10. Gallstones: Small, hard deposits that form in the gallbladder and can cause pain and inflammation.

These are just a few examples of gastrointestinal disorders, and there are many others. If you are experiencing symptoms such as abdominal pain, bloating, diarrhea, constipation, or difficulty swallowing, it is important to speak with your healthcare provider to determine the cause and develop an appropriate treatment plan.

A nonsense codon is a sequence of three nucleotides in DNA or RNA that does not code for an amino acid. Instead, it signals the end of the protein-coding region of a gene and triggers the termination of translation, the process by which the genetic code is translated into a protein.

In DNA, the nonsense codons are UAA, UAG, and UGA, which are also known as "stop codons." When these codons are encountered during translation, they cause the release of the newly synthesized polypeptide chain from the ribosome, bringing the process of protein synthesis to a halt.

Nonsense mutations are changes in the DNA sequence that result in the appearance of a nonsense codon where an amino acid-coding codon used to be. These types of mutations can lead to premature termination of translation and the production of truncated, nonfunctional proteins, which can cause genetic diseases or contribute to cancer development.

Intermediate filament proteins (IFPs) are a type of cytoskeletal protein that form the intermediate filaments (IFs), which are one of the three major components of the cytoskeleton in eukaryotic cells, along with microtubules and microfilaments. These proteins have a unique structure, characterized by an alpha-helical rod domain flanked by non-helical head and tail domains.

Intermediate filament proteins are classified into six major types based on their amino acid sequence: Type I (acidic) and Type II (basic) keratins, Type III (desmin, vimentin, glial fibrillary acidic protein, and peripherin), Type IV (neurofilaments), Type V (lamins), and Type VI (nestin). Each type of IFP has a distinct pattern of expression in different tissues and cell types.

Intermediate filament proteins play important roles in maintaining the structural integrity and mechanical strength of cells, providing resilience to mechanical stress, and regulating various cellular processes such as cell division, migration, and signal transduction. Mutations in IFP genes have been associated with several human diseases, including cancer, neurodegenerative disorders, and genetic skin fragility disorders.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Genetic skin diseases are a group of disorders caused by mutations or alterations in the genetic material (DNA), which can be inherited from one or both parents. These mutations affect the structure, function, or development of the skin and can lead to various conditions with different symptoms, severity, and prognosis.

Some examples of genetic skin diseases include:

1. Epidermolysis Bullosa (EB): A group of disorders characterized by fragile skin and mucous membranes that blister and tear easily, leading to painful sores and wounds. There are several types of EB, each caused by mutations in different genes involved in anchoring the epidermis to the dermis.
2. Ichthyosis: A family of genetic disorders characterized by dry, thickened, scaly, or rough skin. The severity and symptoms can vary widely, depending on the specific type and underlying genetic cause.
3. Neurofibromatosis: A group of conditions caused by mutations in the NF1 gene, which regulates cell growth and division. The most common types, NF1 and NF2, are characterized by the development of benign tumors called neurofibromas on the skin and nerves, as well as other symptoms affecting various organs and systems.
4. Tuberous Sclerosis Complex (TSC): A genetic disorder caused by mutations in the TSC1 or TSC2 genes, which control cell growth and division. TSC is characterized by the development of benign tumors in multiple organs, including the skin, brain, heart, kidneys, and lungs.
5. Xeroderma Pigmentosum (XP): A rare genetic disorder caused by mutations in genes responsible for repairing DNA damage from ultraviolet (UV) radiation. People with XP are extremely sensitive to sunlight and have a high risk of developing skin cancer and other complications.
6. Incontinentia Pigmenti (IP): A genetic disorder that affects the development and growth of skin, hair, nails, teeth, and eyes. IP is caused by mutations in the IKBKG gene and primarily affects females.
7. Darier's Disease: An inherited skin disorder characterized by greasy, crusted, keratotic papules and plaques, usually located on the trunk, scalp, and seborrheic areas of the body. Darier's disease is caused by mutations in the ATP2A2 gene.

These are just a few examples of genetic skin disorders. There are many more, each with its unique set of symptoms, causes, and treatments. If you or someone you know has a genetic skin disorder, it is essential to consult with a dermatologist or other healthcare professional for proper diagnosis and treatment.

Collagen is the most abundant protein in the human body, and it is a major component of connective tissues such as tendons, ligaments, skin, and bones. Collagen provides structure and strength to these tissues and helps them to withstand stretching and tension. It is made up of long chains of amino acids, primarily glycine, proline, and hydroxyproline, which are arranged in a triple helix structure. There are at least 16 different types of collagen found in the body, each with slightly different structures and functions. Collagen is important for maintaining the integrity and health of tissues throughout the body, and it has been studied for its potential therapeutic uses in various medical conditions.

Artificial Skin is a synthetic substitute or equivalent that is used to replace, support, or enhance the function of damaged or absent skin. It can be made from various materials such as biopolymers, composites, or biosynthetic materials. The main purpose of artificial skin is to provide a temporary or permanent covering for wounds, burns, or ulcers that cannot be healed with conventional treatments. Additionally, it may serve as a platform for the delivery of medications or as a matrix for the growth of cells and tissues during skin grafting procedures. Artificial skin must possess properties such as biocompatibility, durability, flexibility, and permeability to air and water vapor in order to promote optimal healing and minimize scarring.

Intestinal atresia is a congenital condition characterized by the absence or complete closure of a portion of the intestine, preventing the passage of digested food from the stomach to the remaining part of the intestines. This results in a blockage in the digestive system, which can be life-threatening if not treated promptly after birth. The condition can occur anywhere along the small or large intestine and may affect either a single segment or multiple segments of the intestine.

There are several types of intestinal atresia, including:

1. Jejunal atresia: A closure or absence in the jejunum, a part of the small intestine located between the duodenum and ileum.
2. Ileal atresia: A closure or absence in the ileum, the lower portion of the small intestine that connects to the large intestine (cecum).
3. Colonic atresia: A closure or absence in the colon, a part of the large intestine responsible for storing and eliminating waste.
4. Duodenal atresia: A closure or absence in the duodenum, the uppermost portion of the small intestine that receives chyme (partially digested food) from the stomach.
5. Multiple atresias: When more than one segment of the intestines is affected by atresia.

The exact cause of intestinal atresia remains unclear, but it is believed to be related to disruptions in fetal development during pregnancy. Treatment typically involves surgical correction to reconnect the affected segments of the intestine and restore normal digestive function. The prognosis for infants with intestinal atresia depends on the severity and location of the atresia, as well as any associated conditions or complications.

Autoantigens are substances that are typically found in an individual's own body, but can stimulate an immune response because they are recognized as foreign by the body's own immune system. In autoimmune diseases, the immune system mistakenly attacks and damages healthy tissues and organs because it recognizes some of their components as autoantigens. These autoantigens can be proteins, DNA, or other molecules that are normally present in the body but have become altered or exposed due to various factors such as infection, genetics, or environmental triggers. The immune system then produces antibodies and activates immune cells to attack these autoantigens, leading to tissue damage and inflammation.

A codon is a sequence of three adjacent nucleotides in DNA or RNA that specifies a particular amino acid during the process of protein synthesis, or codes for the termination of translation. In DNA, these triplets are read in a 5' to 3' direction, while in mRNA, they are read in a 5' to 3' direction as well. There are 64 possible codons (4^3) in the genetic code, and 61 of them specify amino acids. The remaining three codons, UAA, UAG, and UGA, are terminator or stop codons that signal the end of protein synthesis.

Terminator codons, also known as nonsense codons, do not code for any amino acids. Instead, they cause the release of the newly synthesized polypeptide chain from the ribosome, which is the complex machinery responsible for translating the genetic code into a protein. This process is called termination or translation termination.

In prokaryotic cells, termination occurs when a release factor recognizes and binds to the stop codon in the A site of the ribosome. This triggers the hydrolysis of the peptidyl-tRNA bond, releasing the completed polypeptide chain from the tRNA and the ribosome. In eukaryotic cells, a similar process occurs, but it involves different release factors and additional steps to ensure accurate termination.

In summary, a codon is a sequence of three adjacent nucleotides in DNA or RNA that specifies an amino acid or signals the end of protein synthesis. Terminator codons are specific codons that do not code for any amino acids and instead signal the end of translation, leading to the release of the newly synthesized polypeptide chain from the ribosome.

According to the American Academy of Ophthalmology and the National Organization for Rare Disorders, bullous pemphigoid is an autoimmune blistering disorder characterized by the formation of large, fluid-filled blisters (bullae) on the skin and mucous membranes. This condition primarily affects older adults, with most cases occurring in individuals over 60 years of age.

In bullous pemphigoid, the immune system mistakenly produces antibodies against proteins called BP230 and BP180, which are found in the basement membrane zone – a layer that separates the epidermis (outer skin layer) from the dermis (inner skin layer). This autoimmune response leads to the formation of blisters, causing significant discomfort and potential complications if left untreated.

The symptoms of bullous pemphigoid typically include:

1. Large, fluid-filled blisters on the skin, often appearing on the trunk, arms, or legs. These blisters may be itchy or painful.
2. Blisters that rupture easily, leading to raw, open sores.
3. Mucous membrane involvement, such as blisters in the mouth, nose, eyes, or genital area.
4. Skin redness and irritation.
5. Fluid-filled bumps (papules) or pus-filled bumps (pustules).
6. Scarring and skin discoloration after blisters heal.

Treatment for bullous pemphigoid usually involves a combination of medications to control the immune response, reduce inflammation, and promote healing. These may include corticosteroids, immunosuppressants, or other targeted therapies. In some cases, antibiotics may also be prescribed to help manage secondary infections that can occur due to blister formation.

It is essential to consult with a healthcare professional for an accurate diagnosis and treatment plan if you suspect you have bullous pemphigoid or are experiencing related symptoms.

Intermediate filaments (IFs) are a type of cytoskeletal filament found in the cytoplasm of eukaryotic cells, including animal cells. They are called "intermediate" because they are smaller in diameter than microfilaments and larger than microtubules, two other types of cytoskeletal structures.

Intermediate filaments are composed of fibrous proteins that form long, unbranched, and flexible filaments. These filaments provide structural support to the cell and help maintain its shape. They also play a role in cell-to-cell adhesion, intracellular transport, and protection against mechanical stress.

Intermediate filaments are classified into six types based on their protein composition: Type I (acidic keratins), Type II (neutral/basic keratins), Type III (vimentin, desmin, peripherin), Type IV (neurofilaments), Type V (lamins), and Type VI (nestin). Each type of intermediate filament has a specific function and is expressed in different cell types. For example, Type I and II keratins are found in epithelial cells, while vimentin is expressed in mesenchymal cells.

Overall, intermediate filaments play an essential role in maintaining the structural integrity of cells and tissues, and their dysfunction has been implicated in various human diseases, including cancer, neurodegenerative disorders, and genetic disorders.

Reticulin is a type of protein fiber that forms part of the extracellular matrix in various connective tissues in the body. It is composed of collagenous and non-collagenous proteins, and it has a reticular or network-like structure when viewed under a microscope. In histology (the study of the microscopic structure of tissues), reticulin fibers are often stained to help identify certain types of cells or structures.

In particular, reticulin fibers are often found in close association with certain types of cells, such as hematopoietic stem cells and neurons. They provide structural support and help regulate the function of these cells. In addition, reticulin fibers play a role in the immune response, wound healing, and tissue repair.

Abnormal accumulations of reticulin fibers can be seen in various disease states, such as fibrosis (excessive scarring) and certain types of cancer. For example, increased reticulin fibers are often found in the liver in patients with cirrhosis, a condition characterized by extensive scarring and damage to the liver. Similarly, abnormal reticulin fiber deposition is seen in some forms of lymphoma, a type of cancer that affects the lymphatic system.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Prurigo is a dermatological condition characterized by the development of persistent, itchy papules (small, solid, raised bumps) on the skin. These lesions often result in scratching or rubbing, which can further exacerbate the itching and lead to the formation of new papules. The exact cause of prurigo is not well understood, but it may be associated with various underlying conditions such as atopic dermatitis, diabetes, HIV infection, or chronic renal failure.

There are two main types of prurigo: acute and chronic. Acute prurigo typically lasts for less than six months and is often triggered by an insect bite, drug reaction, or other short-term factors. Chronic prurigo, on the other hand, can persist for years and may be more resistant to treatment.

Prurigo can significantly affect a person's quality of life due to constant itching, discomfort, and potential sleep disturbances. Dermatological evaluation, identification of underlying causes, and appropriate management strategies are essential in addressing this condition effectively.

In medical terms, turbinates refer to the curled bone shelves that are present inside the nasal passages. They are covered by a mucous membrane and are responsible for warming, humidifying, and filtering the air that we breathe in through our nose. There are three pairs of turbinates in each nasal passage: inferior, middle, and superior turbinates. The inferior turbinate is the largest and most significant contributor to nasal airflow resistance. Inflammation or enlargement of the turbinates can lead to nasal congestion and difficulty breathing through the nose.

Laminin is a family of proteins that are an essential component of the basement membrane, which is a specialized type of extracellular matrix. Laminins are large trimeric molecules composed of three different chains: α, β, and γ. There are five different α chains, three different β chains, and three different γ chains that can combine to form at least 15 different laminin isoforms.

Laminins play a crucial role in maintaining the structure and integrity of basement membranes by interacting with other components of the extracellular matrix, such as collagen IV, and cell surface receptors, such as integrins. They are involved in various biological processes, including cell adhesion, differentiation, migration, and survival.

Laminin dysfunction has been implicated in several human diseases, including cancer, diabetic nephropathy, and muscular dystrophy.

Integrin α6β4 is a type of cell surface receptor that is composed of two subunits, α6 and β4. It is also known as CD49f/CD104. This integrin is primarily expressed in epithelial cells and plays important roles in cell adhesion, migration, and signal transduction.

Integrin α6β4 specifically binds to laminin-332 (also known as laminin-5), a component of the basement membrane, and forms a stable anchorage complex that links the cytoskeleton to the extracellular matrix. This interaction is critical for maintaining the integrity of epithelial tissues and regulating cell behavior during processes such as wound healing and tissue regeneration.

Mutations in the genes encoding integrin α6β4 have been associated with various human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering. Additionally, integrin α6β4 has been implicated in cancer progression and metastasis, as its expression is often upregulated in tumor cells and contributes to their invasive behavior.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.

Microbial collagenase is not a medical term per se, but it does refer to an enzyme that is used in various medical and research contexts. Collagenases are a group of enzymes that break down collagen, a structural protein found in connective tissues such as skin, tendons, and ligaments. Microbial collagenase is a type of collagenase that is produced by certain bacteria, such as Clostridium histolyticum.

In medical terms, microbial collagenase is used in various therapeutic and research applications, including:

1. Wound healing: Microbial collagenase can be used to break down and remove necrotic tissue from wounds, which can help promote healing and prevent infection.
2. Dental applications: Collagenases have been used in periodontal therapy to remove calculus and improve the effectiveness of root planing and scaling procedures.
3. Research: Microbial collagenase is a valuable tool for researchers studying the structure and function of collagen and other extracellular matrix proteins. It can be used to digest tissue samples, allowing scientists to study the individual components of the extracellular matrix.

It's important to note that while microbial collagenase has many useful applications, it must be used with care, as excessive or improper use can damage healthy tissues and cause adverse effects.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Integrin α6 (also known as CD49f) is a type of integrin, which is a heterodimeric transmembrane receptor that mediates cell-cell and cell-extracellular matrix (ECM) interactions. Integrins play crucial roles in various biological processes such as cell adhesion, migration, proliferation, differentiation, and survival.

Integrin α6 is a 130 kDa glycoprotein that pairs with integrin β1, β4 or β5 to form three distinct heterodimeric complexes: α6β1, α6β4, and α6β5. Among these, the α6β4 integrin is the most extensively studied. It specifically binds to laminins in the basement membrane and plays essential roles in maintaining epithelial tissue architecture and function.

The α6β4 integrin has a unique structure with an extended cytoplasmic domain of β4 that can interact with intracellular signaling molecules, cytoskeletal proteins, and other adhesion receptors. This interaction allows the formation of stable adhesion complexes called hemidesmosomes, which anchor epithelial cells to the basement membrane and provide mechanical stability to tissues.

Mutations in integrin α6 or its partners can lead to various human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and mucous membranes that blister and tear easily.

A skin cream is not a medical term per se, but it generally refers to a topical emollient preparation intended for application to the skin. It contains a mixture of water, oil, and active ingredients, which are formulated to provide various benefits such as moisturizing, protecting, soothing, or treating specific skin conditions. The exact definition and composition may vary depending on the product's intended use and formulation.

Examples of active ingredients in skin creams include:

1. Moisturizers (e.g., glycerin, hyaluronic acid) - help to retain water in the skin, making it feel softer and smoother.
2. Emollients (e.g., shea butter, coconut oil, petrolatum) - provide a protective barrier that helps prevent moisture loss and soften the skin.
3. Humectants (e.g., urea, lactic acid, alpha-hydroxy acids) - attract water from the environment or deeper layers of the skin to hydrate the surface.
4. Anti-inflammatory agents (e.g., hydrocortisone, aloe vera) - help reduce redness, swelling, and itching associated with various skin conditions.
5. Antioxidants (e.g., vitamin C, vitamin E, green tea extract) - protect the skin from free radical damage and environmental stressors that can lead to premature aging.
6. Sunscreen agents (e.g., zinc oxide, titanium dioxide, chemical filters) - provide broad-spectrum protection against UVA and UVB rays.
7. Skin lighteners (e.g., hydroquinone, kojic acid, arbutin) - help reduce the appearance of hyperpigmentation and even out skin tone.
8. Acne treatments (e.g., benzoyl peroxide, salicylic acid, retinoids) - target acne-causing bacteria, unclog pores, and regulate cell turnover to prevent breakouts.

It is essential to choose a skin cream based on your specific skin type and concerns, as well as any medical conditions or allergies you may have. Always consult with a dermatologist or healthcare provider before starting a new skincare regimen.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

The epidermis is the outermost layer of the skin, composed mainly of stratified squamous epithelium. It forms a protective barrier that prevents water loss and inhibits the entry of microorganisms. The epidermis contains no blood vessels, and its cells are nourished by diffusion from the underlying dermis. The bottom-most layer of the epidermis, called the stratum basale, is responsible for generating new skin cells that eventually move up to replace dead cells on the surface. This process of cell turnover takes about 28 days in adults.

The most superficial part of the epidermis consists of dead cells called squames, which are constantly shed and replaced. The exact rate at which this happens varies depending on location; for example, it's faster on the palms and soles than elsewhere. Melanocytes, the pigment-producing cells, are also located in the epidermis, specifically within the stratum basale layer.

In summary, the epidermis is a vital part of our integumentary system, providing not only physical protection but also playing a crucial role in immunity and sensory perception through touch receptors called Pacinian corpuscles.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Cell adhesion molecules (CAMs) are a type of protein found on the surface of cells that mediate the attachment or adhesion of cells to either other cells or to the extracellular matrix (ECM), which is the network of proteins and carbohydrates that provides structural and biochemical support to surrounding cells.

CAMs play crucial roles in various biological processes, including tissue development, differentiation, repair, and maintenance of tissue architecture and function. They are also involved in cell signaling, migration, and regulation of the immune response.

There are several types of CAMs, classified based on their structure and function, such as immunoglobulin-like CAMs (IgCAMs), cadherins, integrins, and selectins. Dysregulation of CAMs has been implicated in various diseases, including cancer, inflammation, and neurological disorders.

Acantholysis is a medical term that refers to the separation of the cells in the upper layer of the skin (the epidermis), specifically between the pickle cell layer (stratum spinosum) and the granular cell layer (stratum granulosum). This separation results in the formation of distinct, round, or oval cells called acantholytic cells, which are typically seen in certain skin conditions.

Acantholysis is a characteristic feature of several skin disorders, including:

1. Pemphigus vulgaris: A rare autoimmune blistering disorder where the immune system produces antibodies against desmoglein-1 and -3 proteins, leading to acantholysis and formation of flaccid blisters.
2. Pemphigus foliaceus: Another autoimmune blistering disorder that specifically targets desmoglein-1 protein, causing superficial blisters and erosions on the skin.
3. Hailey-Hailey disease (familial benign chronic pemphigus): An autosomal dominant genetic disorder affecting ATP2C1 gene, leading to defective calcium transport and abnormal keratinocyte adhesion, resulting in acantholysis and recurrent skin eruptions.
4. Darier's disease (keratosis follicularis): An autosomal dominant genetic disorder affecting ATP2A2 gene, causing dysfunction of calcium transport and abnormal keratinocyte adhesion, resulting in acantholysis and characteristic papular or keratotic skin lesions.
5. Grover's disease (transient acantholytic dermatosis): An acquired skin disorder of unknown cause, characterized by the development of pruritic, red, and scaly papules and vesicles due to acantholysis.

The presence of acantholysis in these conditions can be confirmed through histopathological examination of skin biopsies.

Genetic therapy, also known as gene therapy, is a medical intervention that involves the use of genetic material, such as DNA or RNA, to treat or prevent diseases. It works by introducing functional genes into cells to replace missing or faulty ones caused by genetic disorders or mutations. The introduced gene is incorporated into the recipient's genome, allowing for the production of a therapeutic protein that can help manage the disease symptoms or even cure the condition.

There are several approaches to genetic therapy, including:

1. Replacing a faulty gene with a healthy one
2. Inactivating or "silencing" a dysfunctional gene causing a disease
3. Introducing a new gene into the body to help fight off a disease, such as cancer

Genetic therapy holds great promise for treating various genetic disorders, including cystic fibrosis, muscular dystrophy, hemophilia, and certain types of cancer. However, it is still an evolving field with many challenges, such as efficient gene delivery, potential immune responses, and ensuring the safety and long-term effectiveness of the therapy.

A rare disease, also known as an orphan disease, is a health condition that affects fewer than 200,000 people in the United States or fewer than 1 in 2,000 people in Europe. There are over 7,000 rare diseases identified, and many of them are severe, chronic, and often life-threatening. The causes of rare diseases can be genetic, infectious, environmental, or degenerative. Due to their rarity, research on rare diseases is often underfunded, and treatments may not be available or well-studied. Additionally, the diagnosis of rare diseases can be challenging due to a lack of awareness and understanding among healthcare professionals.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Electron microscopy (EM) is a type of microscopy that uses a beam of electrons to create an image of the sample being examined, resulting in much higher magnification and resolution than light microscopy. There are several types of electron microscopy, including transmission electron microscopy (TEM), scanning electron microscopy (SEM), and reflection electron microscopy (REM).

In TEM, a beam of electrons is transmitted through a thin slice of the sample, and the electrons that pass through the sample are focused to form an image. This technique can provide detailed information about the internal structure of cells, viruses, and other biological specimens, as well as the composition and structure of materials at the atomic level.

In SEM, a beam of electrons is scanned across the surface of the sample, and the electrons that are scattered back from the surface are detected to create an image. This technique can provide information about the topography and composition of surfaces, as well as the structure of materials at the microscopic level.

REM is a variation of SEM in which the beam of electrons is reflected off the surface of the sample, rather than scattered back from it. This technique can provide information about the surface chemistry and composition of materials.

Electron microscopy has a wide range of applications in biology, medicine, and materials science, including the study of cellular structure and function, disease diagnosis, and the development of new materials and technologies.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Mouth diseases refer to a variety of conditions that affect the oral cavity, including the lips, gums, teeth, tongue, palate, and lining of the mouth. These diseases can be caused by bacteria, viruses, fungi, or other organisms. They can also result from injuries, chronic illnesses, or genetic factors.

Some common examples of mouth diseases include dental caries (cavities), periodontal disease (gum disease), oral herpes, candidiasis (thrush), lichen planus, and oral cancer. Symptoms may include pain, swelling, redness, bleeding, bad breath, difficulty swallowing or speaking, and changes in the appearance of the mouth or teeth. Treatment depends on the specific diagnosis and may involve medications, dental procedures, or lifestyle changes.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

Pruritus is a medical term derived from Latin, in which "prurire" means "to itch." It refers to an unpleasant sensation on the skin that provokes the desire or reflex to scratch. This can be caused by various factors, such as skin conditions (e.g., dryness, eczema, psoriasis), systemic diseases (e.g., liver disease, kidney failure), nerve disorders, psychological conditions, or reactions to certain medications.

Pruritus can significantly affect a person's quality of life, leading to sleep disturbances, anxiety, and depression. Proper identification and management of the underlying cause are essential for effective treatment.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Epidermolytic hyperkeratosis (EH) is a rare genetic skin disorder characterized by the abnormal growth and accumulation of keratin, a protein found in the outermost layer of the skin (epidermis). This condition results in widespread blistering and peeling of the skin, particularly in areas prone to friction such as the hands, feet, knees, and elbows.

EH is caused by mutations in the KRT1 or KRT10 genes, which provide instructions for making keratin proteins that are essential for maintaining the structure and integrity of the epidermis. When these genes are mutated, the keratin proteins become unstable and form clumps, leading to the formation of blisters and areas of thickened, scaly skin (hyperkeratosis).

EH is typically present at birth or appears in early childhood, and it can range from mild to severe. In addition to the skin symptoms, individuals with EH may also experience nail abnormalities, hair loss, and an increased risk of skin infections. Treatment for EH is focused on managing symptoms and preventing complications, and may include topical creams or ointments, wound care, and protection from friction and injury.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

Ichthyosis Bullosa of Siemens (IBS) is a rare genetic skin disorder that is characterized by the presence of blisters and erosions on the skin. It is caused by mutations in the KRT5 or KRT14 gene, which provide instructions for making keratin proteins that are essential for the structural integrity of the skin.

In IBS, the mutated keratin proteins are fragile and can form clumps, leading to the formation of blisters in response to minor trauma or friction. These blisters typically occur on the palms of the hands, soles of the feet, and other areas of the body that are subjected to frequent rubbing or pressure.

IBS is usually present at birth or develops during infancy, and it can vary in severity from mild to severe. In addition to blistering, individuals with IBS may also experience skin thickening, hyperpigmentation, and scaling. The condition can be associated with other medical issues, such as nail abnormalities, hair loss, and dental problems.

There is no cure for IBS, but treatment is focused on managing symptoms and preventing complications. This may include the use of topical creams or ointments to protect the skin, antibiotics to treat infections, and pain management strategies. In severe cases, systemic medications such as retinoids may be used to help reduce blistering and promote skin healing.

The Fluorescent Antibody Technique (FAT) is a type of immunofluorescence assay used in laboratory medicine and pathology for the detection and localization of specific antigens or antibodies in tissues, cells, or microorganisms. In this technique, a fluorescein-labeled antibody is used to selectively bind to the target antigen or antibody, forming an immune complex. When excited by light of a specific wavelength, the fluorescein label emits light at a longer wavelength, typically visualized as green fluorescence under a fluorescence microscope.

The FAT is widely used in diagnostic microbiology for the identification and characterization of various bacteria, viruses, fungi, and parasites. It has also been applied in the diagnosis of autoimmune diseases and certain cancers by detecting specific antibodies or antigens in patient samples. The main advantage of FAT is its high sensitivity and specificity, allowing for accurate detection and differentiation of various pathogens and disease markers. However, it requires specialized equipment and trained personnel to perform and interpret the results.

... epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and ... Wikimedia Commons has media related to Epidermolysis bullosa. GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex ... "Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features". British ... Epidermis bullosa pruriginosa and albopapuloid epidermolysis bullosa (Pasini's disease) are rare subtypes of this disease. The ...
... may refer to: Junctional epidermolysis bullosa (medicine) Junctional epidermolysis bullosa ( ... This disambiguation page lists articles associated with the title Junctional epidermolysis bullosa. If an internal link led you ...
598 Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that ... are tied to the four major types of epidermolysis bullosa simplex. However, a small number of epidermolysis bullosa simplex ... Wikimedia Commons has media related to Epidermolysis bullosa simplex. GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa ... Epidermolysis bullosa simplex may be divided into multiple types: No cure for EB Treat symptoms Protect skin, stop blister ...
There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex ... Epidermolysis bullosa Reference, Genetics Home. "dystrophic epidermolysis bullosa". Genetics Home Reference. Retrieved 2017-04- ... response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa ... Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. " ...
... , also known as acquired epidermolysis bullosa, is a longterm autoimmune blistering skin disease ... Kridin, Khalaf; Kneiber, Diana; Kowalski, Eric H.; Valdebran, Manuel; Amber, Kyle T. (August 2019). "Epidermolysis bullosa ... Acquired epidermolysis bullosa". www.orpha.net. Archived from the original on 30 July 2017. Retrieved 19 April 2019. ...
... is a fatal genetic skin disorder caused by mutations in DSP Desmoplakin List of ... conditions caused by problems with junctional proteins Epidermolysis bullosa See OMIM entry for complete details "Epidermolysis ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... bullosa, lethal acantholytic , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih. ...
Junctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa ... Epidermolysis bullosa Junctional epidermolysis bullosa (veterinary medicine) Skin lesion Freedberg IM, Fitzpatrick TB (2003). ... "Lethal junctional epidermolysis bullosa") is the most lethal type of epidermolysis bullosa, a skin condition in which most ... 557 Mitis junctional epidermolysis bullosa (also known as "Nonlethal junctional epidermolysis bullosa") is a skin condition ...
"Junctional Epidermolysis Bullosa". U.S. National Library of Medicine. "Junctional Epidermolysis Bullosa (JEB) Test". UC Davis. ... Junctional epidermolysis bullosa (JEB) is an inherited disorder that is also known as red foot disease or hairless foal ... "Junctional Epidermolysis Bullosa (JEB)". Animal Genetics. Abuterbush, Sameeh M. (2009). Illustrated Guide to Equine Disease. ...
Abnormalities in CD151 have been implicated in a form of epidermolysis bullosa. CD151 has been shown to interact with CD46. ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... "Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations ...
Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa, as well as ... The disorder caused by biallelic COL17A1 mutations and is called junctional epidermolysis bullosa, an autosomal recessive skin ... 1997). "Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion". Cell. 88 (4): 543-51. doi:10.1016/ ... 1998). "Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa". J. ...
September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex Proteopedia page on keratins v t e (Articles with short ... Bonifas JM, Rothman AL, Epstein EH (November 1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene ... 1993). "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa ...
Cutaneous radiation syndrome Epidermolysis bullosa: a genetic disorder that results in a detachment in the skin layers, ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ...
September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... A group of diseases stemming from improper function of basement membrane zone are united under the name epidermolysis bullosa. ...
"Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ...
Epidermolysis bullosa simplex (EBS) is an inherited skin blistering disorder associated with mutations in either K5 or K14. EBS ... "A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid ... Chan YM, Yu QC, Fine JD, Fuchs E (Aug 1993). "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex". Proceedings ... GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex Keratin-5 at the U.S. National Library of Medicine Medical ...
The genetic skin disorders collectively known as epidermolysis bullosa display skin fragility and a tendency to develop chronic ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ...
... such as epidermolysis bullosa, bullous pemphigoid, bullous amyloidosis, and epidermolysis bullosa acquisita, since bullous ... Epidermolysis bullosa (EB) is a genetic disease that causes the skin to be extremely fragile and individuals with the disease ... September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... There are thirty subtypes of epidermolysis bullosa which are arranged into four major categories: EB simplex (EBS), dystrophic ...
With junctional epidermolysis bullosa, layers of the lamina lucida (part of the basal lamina) separate. This is caused by ... In dystrophic epidermolysis bullosa, the layers of the papillary dermis separate from the anchoring fibrils. This is caused by ... Desmosome Epidermolysis bullosa Focal adhesion Nguyen NM, Pulkkinen L, Schlueter JA, Meneguzzi G, Uitto J, Senior RM (2006). " ... There are three types of EB: EB simplex (EBS), dystrophic EB (DEB) and junctional EB (JEB). In epidermolysis bullosa simplex, ...
Epidermolysis bullosa is a genetic condition that in its most severe forms affects all of the body's linings, the skin, the ... Debra of America was founded in 1980 by Arlene Pessar and her son, Eric Lopez, who was born with epidermolysis bullosa. It is ... Although the backronym of Dystrophic Epidermolysis Bullosa Research Association has been used by DEBRA UK in the past, the ... Donations and proceeds from shops fund services for epidermolysis bullosa affected families and medical research into the ...
It is characterized by blister formation secondary to even mild trauma.: 558 A subtype of dystrophic epidermolysis bullosa, it ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... "Bullous Dermolysis of the Newborn and Dystrophic Epidermolysis Bullosa Pruriginosa within the Same Family: Two Phenotypes ...
Rothmund-Thomson syndrome Epidermolysis bullosa List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ...
GeneReviews/NCBI/NIH/UW entry on Epidermolysis Bullosa with Pyloric Atresia plectin at the U.S. National Library of Medicine ... Mutations in PLEC have been associated with epidermolysis bullosa simplex with muscular dystrophy. A missense variant of PLEC ... Pfendner E, Rouan F, Uitto J (Apr 2005). "Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations". ... Isolated left ventricular non-compaction accompanying epidermolysis bullosa simplex with muscular dystrophy was also noted. ...
September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... such as xeroderma pigmentosum and certain forms of epidermolysis bullosa. cSCC begins from squamous cells found in the upper ...
Epidermolysis bullosa dystrophica, also known as Dystrophic EB (DEB) is a chronic skin condition caused when anchoring fibrils ... Burgeson, Robert E. (1993). "Type VII Collagen, Anchoring Fibrils, and Epidermolysis Bullosa". Journal of Investigative ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... Lessons from dystrophic epidermolysis bullosa". Matrix Biology. 18 (1): 43-54. doi:10.1016/S0945-053X(98)00007-9. PMID 10367730 ...
"Dermo-epidermal junction zone". Netzwerk Epidermolysis bullosa. 2006. Archived from the original on 11 February 2013. Retrieved ...
So JY, Teng J (1993). "Epidermolysis Bullosa Simplex". In Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp ... and prevention of blister formation for some people with epidermolysis bullosa simplex. One of the effects of the drug is ...
Gupta, R; Woodley, D. T.; Chen, M (2012). "Epidermolysis bullosa acquisita". Clinics in Dermatology. 30 (1): 60-9. doi:10.1016/ ... Photopheresis has also been successful in treating epidermolysis bullosa acquisita when all other treatments have been ...
A case of compound heterozygosity for two DSP nonsense mutations resulting in lethal acantholytic epidermolysis bullosa has ... McGrath JA, Bolling MC, Jonkman MF (Jan 2010). "Lethal acantholytic epidermolysis bullosa". Dermatologic Clinics. 28 (1): 131-5 ... "Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa". American Journal of Human Genetics. 77 (4): 653-60 ...
Carvalho, Teresa (December 2, 2022). "Venture Into Cures Raises $1.3M for Epidermolysis Bullosa Research". EpidermolysisBullosa ... 6 million for the last 3 years to find a cure for Epidermolysis Bullosa and other rare diseases. In December 2022, Rodrigo with ... join Jill and Eddie Vedder for the third annual Venture into Cures benefit to find a cure for Epidermolysis Bullosa" (Press ...
COL7A1 Epidermolysis bullosa of hands and feet; 131800; ITGB4 Epidermolysis bullosa pruriginosa; 604129; COL7A1 Epidermolysis ... KRT5 Epidermolysis bullosa simplex with mottled pigmentation; 131960; KRT5 Epidermolysis bullosa simplex with pyloric atresia; ... PLEC1 Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT14 Epidermolysis bullosa simplex, Dowling-Meara type; ... KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; ...
... epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and ... Wikimedia Commons has media related to Epidermolysis bullosa. GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex ... "Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features". British ... Epidermis bullosa pruriginosa and albopapuloid epidermolysis bullosa (Pasinis disease) are rare subtypes of this disease. The ...
Epidermolysis bullosa (EB) is a group of disorders in which skin blisters form after a minor injury. It is passed down in ... Epidermolysis bullosa (EB) is a group of disorders in which skin blisters form after a minor injury. It is passed down in ... EB; Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne ... Epidermolysis bullosa (EB) is a group of disorders in which skin blisters form after a minor injury. It is passed down in ...
Epidermolysis bullosa is a group of inherited conditions of the connective tissues that cause blisters in response to heat, ... Epidermolysis bullosa. (2018).. http://www.nhs.uk/conditions/Epidermolysis-bullosa. *. Epidermolysis bullosa. (2016).. http:// ... Living with epidermolysis bullosa. (2016).. https://www.niams.nih.gov/health-topics/epidermolysis-bullosa#tab-living-with. ... Junctional epidermolysis bullosa. (n.d.). https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#statistics. ...
This is the first topical medication ever tested for epidermolysis bullosa to beat placebo. ... Cite this: Epidermolysis Bullosa: Birch Bark Derivative Gel First Effective Topical for this Beleaguered Patient Group - ... A gel derived from birch bark is the first topical medication ever tested in the treatment of epidermolysis bullosa (EB) to ... Epidermolysis Bullosa: Birch Bark Derivative Gel First Effective Topical for this Beleaguered Patient Group. ...
Epidermolysis bullosa (EB) is a group of rare diseases caused by genetic mutations. Learn about EB causes, symptoms, types, ... Genetic mutations cause epidermolysis bullosa.. Epidermolysis bullosa is a group of inherited conditions that affect the ... Epidermolysis Bullosa." Seminars in Perinatology 37 (2013): 32-39.. Has, Cristina, and Judith Fischer. "Inherited Epidermolysis ... Top Epidermolysis Bullosa (EB) Related Articles. *. Blisters Picture. Wearing shoes that do not fit properly or wearing shoes ...
Epidermolysis bullosa acquisita is characterized clinically by blisters, scars, and milia primarily at the trauma-prone areas. ... Epidermolysis bullosa acquisita (EBA) is a chronic autoimmune subepidermal blistering disease of the skin and mucus membranes. ... Epidermolysis bullosa acquisita is rare in humans. In animals, epidermolysis bullosa acquisita has been reported in dogs only. ... encoded search term (Epidermolysis Bullosa Acquisita) and Epidermolysis Bullosa Acquisita What to Read Next on Medscape ...
The meaning of EPIDERMOLYSIS BULLOSA SIMPLEX is any of several forms of epidermolysis bullosa that are marked by blister ... Post the Definition of epidermolysis bullosa simplex to Facebook Facebook Share the Definition of epidermolysis bullosa simplex ... any of several forms of epidermolysis bullosa that are marked by blister formation within the epidermis sometimes accompanied ... "Epidermolysis bullosa simplex." Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/ ...
Treatment for epidermolysis bullosa may first include lifestyle changes and home care. If these dont control symptoms, your ... Specialized epidermolysis bullosa centers. Centers that specialize in the diagnosis, evaluation and treatment of people with ... Ask your health care provider about epidermolysis bullosa support groups in your area. If joining a support group isnt for you ... Your health care provider may identify epidermolysis bullosa from the skins appearance. You or your child may need tests to ...
What is Epidermolysis Bullosa (EB)?. Epidermolysis Bullosa (EB) is a rare, inherited group of skin disorders characterised by ...
... J Invest Dermatol. 2001 Mar;116(3):483-4. doi: 10.1046/j.1523- ...
Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. Explore symptoms, ... EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B. *EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA; ... Epidermolysis bullosa simplex 5C, with pyloric atresia *Genetic Testing Registry: Epidermolysis bullosa, junctional 6, with ... medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia/ Epidermolysis bullosa with pyloric atresia. ...
Junctional Epidermolysis Bullosa (JEB) is a skin disorder that causes skin fragility and blistering, as well as irritations in ... Junctional Epidermolysis Bullosa (Discovered in the Australian Shepherd). Junctional Epidermolysis Bullosa (JEB) is a skin ... Epidermolysis Bullosa is a group of inherited disorders characterized by skin fragility and multifocal skin blistering and ... A carrier dog with one copy of the Junctional Epidermolysis Bullosa (Discovered in the Australian Shepherd) variant can be ...
... recently released guidance to help companies develop new treatments for epidermolysis bullosa (EB), which is a debilitating and ... Epidermolysis Bullosa: FDA Seeks to Help Development of New Treatments. Regulatory NewsZachary Brennan. ...
Skin Genetic Diseases: Keratosis, Epidermolysis Bullosa, Lamellar Ichthyosis. Skin Genetic Diseases: Keratosis, Epidermolysis ... Epidermolysis bullosa: A condition that causes the skin to blister at the slightest pressure or temperature change. This could ... Bullosa, Lamellar Ichthyosis. Your skin is affected by numerous external factors, such as your environment or your skin care ...
Historically, epidermolysis bullosa subtypes have been classified according to skin morphology. ... Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to ... EBS: epidermolysis bullosa simplex. JEB: junctional epidermolysis bullosa. DEB: dystrophic epidermolysis bullosa. ... epidermolysis bullosa simplex and dystrophic epidermolysis bullosa and milder forms of junctional epidermolysis bullosa may not ...
... of kidney-urinary tract complications and the affected protein involved with intermediate junctional epidermolysis bullosa (JEB ... Individuals with junctional epidermolysis bullosa (JEB) live with fragile, blistering skin and mucosal membranes which can ... The study, Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa was published in JAMA ... With a rare disorder like Junctional Epidermolysis Bullosa, physician and patient education and awareness around possible ...
Keywords: clinical diagnostic matrix, Kindler syndrome, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, ... Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases known to have heterogenicity of phenotypes and ... diagnostic and genetic analysis tools with whole-exome sequencing confirmed the challenging diagnosis of epidermolysis bullosa ...
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The study presents evolution of skin lesions in epidermolysis bullosa observed in a girl on an eleven-year follow-up. ... Evolution of skin lesions in epidermolysis bullosa in a girl on an 11-years follow-up Med Sci Monit 1996; 2(4): CS484-487 :: ID ...
Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation ... Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation. ...
In epidermolysis bullosa, blisters form on the skin following minor skin trauma, such as bumping into objects, sitting on hard ... Epidermolysis bullosa is a blistering skin disease which is usually first noticed during early childhood. ... Junctional epidermolysis bullosa: This is one of the rarer types of epidermolysis bullosa, and as the name suggests, it affects ... Epidermolysis bullosa simplex: this form of epidermolysis bullosa affects predominantly the hands and feet. This type of the ...
Epidermolysis Bullosa (EB) is a heterogeneous family of rare genetic skin disorders characterized by loss of dermal-epidermal ... Gene editing-based protocols for the ex vivo correction of Recessive Dystrophic Epidermolysis Bullosa. Author(s): Bonafont ... Gene editing-based protocols for the ex vivo correction of Recessive Dystrophic Epidermolysis Bullosa. e-Archivo Repository. ... Among the different subtypes described, the Recessive Dystrophic Epidermolysis Bullosa (RDEB) is the most severe subtype, with ...
What is National Epidermolysis Bullosa (EB) Dressing Scheme?. National Epidermolysis Bullosa (EB) Dressing Scheme - Download ... Episode 20: The National Epidermolysis Bullosa Dressing Scheme. In this episode. Epidermolysis Bullosa (or EB) is a rare ... In this episode of Inform, we are talking with Rebecca Saad about the National Epidermolysis Bullosa Dressing Scheme. NEBDS is ... Inform Podcast Episode 20: The National Epidermolysis Bullosa Dressing SchemeTranscriptDownload. Share your story. Do you have ...
IgA Deposition and Serum Antineutrophil Cytoplasmic Antibody Positivity in a Child With Dystrophic Epidermolysis Bullosa: Case ... IgA Deposition and Serum Antineutrophil Cytoplasmic Antibody Positivity in a Child With Dystrophic Epidermolysis Bullosa: Case ... Patients with epidermolysis bullosa (EB) could develop… https://t.co/tkGKP ...
1. Oral lesions in dystrophic epidermolysis bullosa. Case 3: A right buccal mucosal lesion at (a) T1_day1, (b) T2_day2, (c) T3_ ... Inherited epidermolysis bullosa (EB) is a rare group of genetically heterogeneous diseases, characterized by deficiencies in ... Treatment of Oral Lesions in Dystrophic Epidermolysis Bullosa: A Case Series of Cord Blood Platelet Gel and Low-level Laser ... Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70: 1103- ...
title = "Revertant Mosaicism in Epidermolysis Bullosa",. abstract = "Epidermolysis bullosa (EB) is a group of genetic ... Meyer-Mueller, C., Osborn, M. J., Tolar, J., Boull, C., & Ebens, C. L. (2022). Revertant Mosaicism in Epidermolysis Bullosa. ... Revertant Mosaicism in Epidermolysis Bullosa. Cameron Meyer-Mueller, Mark J. Osborn, Jakub Tolar, Christina Boull, Christen L. ... Revertant Mosaicism in Epidermolysis Bullosa. / Meyer-Mueller, Cameron; Osborn, Mark J.; Tolar, Jakub et al. In: Biomedicines, ...
Revertant Mosaicism in Epidermolysis Bullosa. Cameron Meyer-Mueller, Mark J. Osborn, Jakub Tolar, Christina Boull, Christen L. ... Dive into the research topics of Revertant Mosaicism in Epidermolysis Bullosa. Together they form a unique fingerprint. ...
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A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and ... Engelsk navn: Dystrophic epidermolysis bullosa. Engelske synonym: DEB,Dermolytic epidermolysis bullosa,Epidermolysis bullosa ... Les mer om Epidermolysis bullosa, dystrofisk på Senter for sjeldne diagnoser ved OUS. Søk på Epidermolysis bullosa, dystrofisk ... Epidermolysis bullosa, dystrofisk. Også kjent som: Dystrofisk epidermolysis b. ...
Epidermolysis bullosa acquisita (EBA) is a rare chronic autoimmune blistering disease that is caused by auto-antibodies against ... EPIDERMOLYSIS BULLOSA ACQUISITA. Epidermolysis bullosa acquisita (EBA) is a rare chronic autoimmune blistering disease that is ... EBA has many features in common with the dominantly inherited form of the blistering disease, dystrophic epidermolysis bullosa ...
  • There are four main types: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and Kindler syndrome. (wikipedia.org)
  • Dystrophic epidermolysis bullosa (DEB) is an inherited variant affecting the skin and other organs. (wikipedia.org)
  • In dystrophic epidermolysis bullosa (DEB), blisters form on both the outer and inner layers of skin. (medicalnewstoday.com)
  • In dystrophic epidermolysis bullosa, there is a predisposition to scarring, milia formation, and occasionally squamous cell ca rcinoma. (medicinenet.com)
  • Esophageal strictures associated with junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, or the pyloric atresia associated with a rare form of junctional epidermolysis bullosa can be visualized best by an upper GI series or endoscopy. (medscape.com)
  • In May 2023, the US Food and Drug Administration approved Vyjuvek (beremagene geperpavec), a topical gene therapy drug, for wound treatment in dystrophic epidermolysis bullosa with COL7A1 mutations. (medscape.com)
  • Epidermolysis bullosa is classified into four major categories: (1) epidermolysis bullosa simplex (intraepidermal skin separation), (2) junctional epidermolysis bullosa (skin separation in lamina lucida or central BMZ), (3) dystrophic epidermolysis bullosa (sublamina densa BMZ separation, as in the images below), and (4) Kindler syndrome (extremely rare, blistering at any level). (medscape.com)
  • There are also several subtypes of dystrophic epidermolysis bullosa. (entclinic.com.au)
  • The dystrophic epidermolysis bullosa subtypes often produce scarring after the blisters have healed. (entclinic.com.au)
  • Dystrophic epidermolysis bullosa tends to be due to genetic mutations affecting the collagen in the dermis. (entclinic.com.au)
  • The long-term skin inflammation caused by dystrophic epidermolysis bullosa is problematic, as it can damage the DNA within the skin cells. (entclinic.com.au)
  • Among the different subtypes described, the Recessive Dystrophic Epidermolysis Bullosa (RDEB) is the most severe subtype, with an increased risk of developing squamous cell carcinoma (SCC). (uc3m.es)
  • Oral lesions in dystrophic epidermolysis bullosa. (medicaljournals.se)
  • Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB. (sjelden.no)
  • Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa. (medscape.com)
  • Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. (medscape.com)
  • Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. (medscape.com)
  • Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. (medscape.com)
  • More than 700 mutations in the COL7A1 gene have been identified in people with dystrophic epidermolysis bullosa, a condition that causes the skin to be very fragile and to blister easily. (medlineplus.gov)
  • Researchers classify dystrophic epidermolysis bullosa into a few major types based on the inheritance pattern and features of the condition. (medlineplus.gov)
  • The recessive types of dystrophic epidermolysis bullosa (RDEB) result from mutations in both copies of the COL7A1 gene in each cell. (medlineplus.gov)
  • The most severe, classic form of this disorder is known as recessive dystrophic epidermolysis bullosa severe generalized (RDEB-sev gen). (medlineplus.gov)
  • A milder, dominant form of dystrophic epidermolysis bullosa (DDEB) results from mutations in one copy of the COL7A1 gene in each cell. (medlineplus.gov)
  • It is unclear how COL7A1 gene mutations are associated with an increased risk of a certain cancer called squamous cell carcinoma in people with dystrophic epidermolysis bullosa, particularly RDEB-sev gen. (medlineplus.gov)
  • Rowan is a 3-year-old girl living with Recessive Dystrophic Epidermolysis Bullosa. (ebresearch.org.au)
  • Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form (AR-GDEB-IF) is a rare genetic disorder that affects the skin and mucous membranes. (rarediseaseshealthcenter.com)
  • The cause of Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form is a mutation in the COL7A1 gene. (rarediseaseshealthcenter.com)
  • 1. Pain Management: Pain management is an important part of treating Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form (ARGDEB-IF). (rarediseaseshealthcenter.com)
  • 1. Having a family history of Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form. (rarediseaseshealthcenter.com)
  • Is there a cure/medications for Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form? (rarediseaseshealthcenter.com)
  • The study assessed 31 dystrophic epidermolysis bullosa patients. (livderm.org)
  • Antonio was born with dystrophic epidermolysis bullosa , a rare genetic condition that causes blisters all over his body and in his eyes. (williamhaseltine.com)
  • It is a treatment specifically created for patients with dystrophic epidermolysis bullosa (DEB) and the first topical gene therapy to receive approval in the US. (williamhaseltine.com)
  • It's important to note that Vyjuvek is only approved for treating wounds related to dystrophic epidermolysis bullosa and not as a complete treatment for all types of epidermolysis bullosa. (williamhaseltine.com)
  • Morphological and functional assessment of the oral mucosa in children with dystrophic epidermolysis bullosa]. (bvsalud.org)
  • Anesthesia for dental care management in children with dystrophic epidermolysis bullosa]. (bvsalud.org)
  • citation needed] Junctional epidermolysis bullosa (JEB) is an inherited disease affecting laminin and collagen. (wikipedia.org)
  • Junctional epidermolysis bullosa (JEB) is the most severe form. (medicalnewstoday.com)
  • Junctional Epidermolysis Bullosa (JEB) is a skin disorder that causes skin fragility and blistering, as well as irritations in the oral cavity and upper digestive tract. (wisdompanel.com)
  • The type known as Junctional Epidermolysis Bullosa is indicative of the involvement of the epithelial basement membrane. (wisdompanel.com)
  • A carrier dog with one copy of the Junctional Epidermolysis Bullosa (Discovered in the Australian Shepherd) variant can be safely bred with a clear dog with no copies of the Junctional Epidermolysis Bullosa (Discovered in the Australian Shepherd) variant. (wisdompanel.com)
  • Please note: It is possible that disorder signs similar to the ones associated with this Junctional Epidermolysis Bullosa variant could develop due to a different genetic or clinical cause. (wisdompanel.com)
  • LAMB3 missense variant in Australian Shepherd dogs with junctional epidermolysis bullosa. (wisdompanel.com)
  • Investigators identified a correlation between severity of kidney-urinary tract complications and the affected protein involved with intermediate junctional epidermolysis bullosa (JEB). (consultantlive.com)
  • Individuals with junctional epidermolysis bullosa (JEB) live with fragile, blistering skin and mucosal membranes which can result in skin loss. (consultantlive.com)
  • With a rare disorder like Junctional Epidermolysis Bullosa, physician and patient education and awareness around possible complications is imperative for proper management. (consultantlive.com)
  • The study, ' Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa ' was published in JAMA Dermatology . (consultantlive.com)
  • Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis. (medscape.com)
  • Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (medscape.com)
  • Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. (medscape.com)
  • Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. (nih.gov)
  • Eli also has Junctional Epidermolysis Bullosa. (ebresearch.org.au)
  • A new variant of hereditary epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional form, has been recently reported. (wustl.edu)
  • We report the first case of an infant having benign junctional epidermolysis bullosa with laryngeal involvement. (wustl.edu)
  • 596 Epidermolysis bullosa simplex (EBS) is a form of EB that causes blisters at the site of rubbing. (wikipedia.org)
  • The most common type of EB is epidermolysis bullosa simplex (EBS). (medicalnewstoday.com)
  • In the more severe subtypes of epidermolysis bullosa simplex (Koebner subtype and Dowling-Maera subtype), the blisters are more widespread and the onset of blistering is first noticed a short period of time after birth. (entclinic.com.au)
  • These subtypes cause deeper blisters and erosions than what are seen in epidermolysis bullosa simplex. (entclinic.com.au)
  • Epidermolysis bullosa (EB) simplex blisters form in the levels of the epidermis. (msdmanuals.com)
  • Epidermolysis bullosa simplex is the most common and mildest type, occurring in about 80% of cases. (msdmanuals.com)
  • Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation, also known as epidermolysis bullosa simplex with mottled pigmentation, is related to epidermolysis bullosa simplex generalized type and epidermolysis bullosa, and has symptoms including pachyonychia An important gene associated with Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation is KRT5 (Keratin 5), and among its related pathways/superpathways are Cytoskeletal Signaling and Keratinization. (silexon.tech)
  • Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. (nih.gov)
  • Age-related dynamics of mouth opening and tongue mobility in children with various forms of epidermolysis bullosa]. (bvsalud.org)
  • Another rare type of EB is called epidermolysis bullosa acquisita. (medlineplus.gov)
  • Epidermolysis bullosa acquisita (another condition) is an inappropriately named example of an autoimmune problem that really does not belong in the discussion of mechanobullous diseases. (medicinenet.com)
  • Epidermolysis bullosa acquisita (EBA) is a chronic autoimmune subepidermal blistering disease of the skin and mucus membranes. (medscape.com)
  • Epidermolysis bullosa acquisita is caused by antibodies targeting type VII collagen, the major component of anchoring fibrils that connect the basement membrane to dermal structures. (medscape.com)
  • A second clinical presentation, the inflammatory form of epidermolysis bullosa acquisita, involves a generalized vesiculobullous eruption primarily on the trunk and flexural areas. (medscape.com)
  • Epidermolysis bullosa acquisita is rare in humans. (medscape.com)
  • In animals, epidermolysis bullosa acquisita has been reported in dogs only. (medscape.com)
  • In canine epidermolysis bullosa acquisita, the immunoglobulin G (IgG) autoantibodies also target the type VII collagen noncollagenous (NC1) domain, which shares greater than 80% homology in amino acid sequence with the human NC1 domain. (medscape.com)
  • Various murine models have contributed to the understanding of the pathogenic role of antitype VII collagen antibodies and pathophysiology of epidermolysis bullosa acquisita. (medscape.com)
  • [ 5 , 6 ] More recently, affinity-purified antitype VII collagen autoantibodies from epidermolysis bullosa acquisita patients have induced blisters in an adult hairless mouse strain (SKH1), further supporting a pathogenic role of antitype collagen VII autoantibodies. (medscape.com)
  • Immunization of type VII collagen in athymic nude SJL mice did not induce an autoimmune response, whereas the repletion of T cells from type VII collagen-immunized wild-type mice to the thymic mice showed autoantibody production and resulted in a blistering disease phenotype, supporting the role of T cells in the induction of epidermolysis bullosa acquisita. (medscape.com)
  • Epidermolysis bullosa acquisita (EBA) is an autoimmune disease, manifested by autoantibodies that target type VII collagen, the major protein of anchoring fibrils and the one that connects the epithelial basement membrane to the dermis. (medscape.com)
  • Epidermolysis bullosa acquisita affecting several family members has been reported. (medscape.com)
  • Related articles include Epidermolysis Bullosa Acquisita and Pediatric Epidermolysis Bullosa . (medscape.com)
  • Epidermolysis Bullosa Acquisita Epidermolysis bullosa acquisita is a rare, acquired, chronic condition characterized by subepidermal blistering. (msdmanuals.com)
  • Epidermis bullosa pruriginosa and albopapuloid epidermolysis bullosa (Pasini's disease) are rare subtypes of this disease. (wikipedia.org)
  • Historically, epidermolysis bullosa subtypes have been classified according to skin morphology. (medscape.com)
  • Review of systems information that can be associated with different epidermolysis bullosa (EB) subtypes includes alteration of growth or development and evidence of mucosal involvement, including oral (which is demonstrated in the image below), nasopharyngeal, ocular, genitourinary, GI, or respiratory symptoms. (medscape.com)
  • Epidermolysis bullosa is a group of 4 very rare genetic diseases and their subtypes. (msdmanuals.com)
  • Mutations in the COL7A1 gene can also cause a rare condition called epidermolysis bullosa with congenital localized absence of skin (also known as Bart syndrome or aplasia cutis congenita type VI). (medlineplus.gov)
  • Epidermolysis bullosa (EB) is a group of disorders in which skin blisters form after a minor injury. (medlineplus.gov)
  • In epidermolysis bullosa, blisters form on the skin following minor skin trauma, such as bumping into objects, sitting on hard surfaces and walking. (entclinic.com.au)
  • Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. (medlineplus.gov)
  • Inherited epidermolysis bullosa (EB) is a rare group of genetically heterogeneous diseases, characterized by deficiencies in the adhesion of the connective tissue to the epithelium. (medicaljournals.se)
  • Epidermolysis A rare group of illnesses known as bullosa are genetically inherited and are defined by the development of mucocutaneous blisters followed by minor trauma. (naturalayurvedictreatment.com)
  • Epidermolysis bullosa is a rare genetically determined, dermatologic disease in which minor trauma causes blister formation. (wustl.edu)
  • Phase 2 trial of a neurokinin-1 receptor antagonist for the treatment of chronic itch in epidermolysis bullosa patients: a randomized clinical trial [published online September 18, 2019]. (dermatologyadvisor.com)
  • Epidermolysis Bullosa (EB) is a rare, inherited group of skin disorders characterised by extreme skin fragility. (molnlycke.com)
  • Epidermolysis Bullosa is a group of inherited disorders characterized by skin fragility and multifocal skin blistering and ulcerations. (wisdompanel.com)
  • Based on a better understanding of the basement membrane zone (BMZ) and the genes responsible for its components, newer treatments (eg, gene or protein therapy) may provide solutions to the skin fragility found in patients with epidermolysis bullosa. (medscape.com)
  • A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. (sjelden.no)
  • Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. (biomedcentral.com)
  • Epidermolysis bullosa (EB) is an umbrella term used for a group of genetic disorders characterised by skin fragility and blistering. (dermatologyinpractice.co.uk)
  • This combination of clinical diagnostic and genetic analysis tools with whole-exome sequencing confirmed the challenging diagnosis of epidermolysis bullosa. (go.jp)
  • The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. (medscape.com)
  • Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody. (medscape.com)
  • Trial data published in the Journal of the American Academy of Dermatology support the safety and efficacy of serlopitant, an oral neurokinin 1 (NK1) receptor antagonist, for the treatment of pruritus in epidermolysis bullosa (EB). (dermatologyadvisor.com)
  • Evaluate anemia using CBC count with iron studies in patients with severe epidermolysis bullosa, especially recessively inherited epidermolysis bullosa. (medscape.com)
  • Evaluate nutrition using serum albumin, height and weight curves, diet diaries, and other analyses of nutrition and growth in patients with severe epidermolysis bullosa. (medscape.com)
  • Extensive mucocutaneous epidermolysis bullosa of any type can cause severe pain. (msdmanuals.com)
  • A gel derived from birch bark is the first topical medication ever tested in the treatment of epidermolysis bullosa (EB) to heal wounds faster than placebo. (medscape.com)
  • Epidermolysis Bullosa (or EB) is a rare disease characterized by fragile and blistering skin which requires the frequent application of dressings to repair and protect wounds. (blubrry.com)
  • Epidermolysis bullosa (EB) is caused by a fault, or mutation, in the keratin or collagen gene, and it affects the connective tissues. (medicalnewstoday.com)
  • Epidermolysis bullosa is a family of bullous disorders caused by an absence of basement membrane components due to underlying gene mutations. (medscape.com)
  • Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. (wikipedia.org)
  • Epidermolysis bullosa is a rare group of inherited conditions that causes fragile skin that tends to blister easily. (medicalnewstoday.com)
  • Epidermolysis bullosa is a group of inherited conditions that affect the supporting tissue of the skin and mucosa. (medicinenet.com)
  • Epidermolysis bullosa is due to one or multiple defective genes that normally synthesize structural proteins that are involved in the adherence of the epidermis (the superficial layer of skin) to the dermis (the deeper layer of the skin). (medicinenet.com)
  • Epidermolysis bullosa: A condition that causes the skin to blister at the slightest pressure or temperature change. (cosmeticlaserskinsurgery.com)
  • Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases known to have heterogenicity of phenotypes and genotypes. (go.jp)
  • Epidermolysis bullosa is a blistering skin disease which is usually first noticed during early childhood. (entclinic.com.au)
  • This is because the skin of sufferers of epidermolysis bullosa is highly fragile. (entclinic.com.au)
  • There are three main types of epidermolysis bullosa which are classified according to the level of the skin which is affected. (entclinic.com.au)
  • This is one of the rarer types of epidermolysis bullosa, and as the name suggests, it affects the layer of the skin between the epidermis and the dermis. (entclinic.com.au)
  • Epidermolysis Bullosa (EB) is a heterogeneous family of rare genetic skin disorders characterized by loss of dermal-epidermal adhesion, blistering of the skin, erosions and scar formation after minor trauma. (uc3m.es)
  • Epidermolysis bullosa (EB) is a group of genetic blistering diseases characterized by mechanically fragile skin and mucocutaneous involvement. (umn.edu)
  • Epidermolysis Bullosa (EB) is the generic term for a genetic determined blistering skin condition. (scot.nhs.uk)
  • Recognized as both "butterfly skin" and "the worst disease you've never heard of," epidermolysis bullosa (EB) casts a profound impact The post Butterfly Skin Unmasked: The Challenge of Living with Epidermolysis Bullosa appeared first on News From Ben's Friends. (livingwithepidermolysisbullosa.org)
  • Eddie Vedder of Pearl Jam and EBRP Board Member discusses Epidermolysis Bullosa, a devastating skin condition, along with Dr. Jakub Tolar, a leading researcher, and brave kids and grownups who battle EB every day. (ebresearch.org.au)
  • Epidermolysis bullosa" (EB) is the name given to a group of rare inherited skin disorders that cause extremely fragile skin. (naturalayurvedictreatment.com)
  • Genetic mutations cause epidermolysis bullosa. (medicinenet.com)
  • Epidermolysis bullosa is a group of inherited disorders that involve various genetic mutations. (msdmanuals.com)
  • Epidermolysis bullosa refers to a group of disorders that involve the formation of blisters following trivial trauma. (wikipedia.org)
  • Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. (medscape.com)
  • Epidermolysis Bullosa (EB) is a group of rare genetic disorders, the primary manifestation is the formation of blisters and erosions in response to mechanical trauma [ 1 ]. (biomedcentral.com)
  • Homozygosity mapping and position of known epidermolysis bullosa candidate genes in the cattle genome. (biomedcentral.com)
  • Your health care provider may identify epidermolysis bullosa from the skin's appearance. (mayoclinic.org)
  • this form of epidermolysis bullosa affects predominantly the hands and feet. (entclinic.com.au)
  • Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling. (mayoclinic.org)
  • Discoveries of the molecular basis of epidermolysis bullosa have resulted in the development of diagnostic tools, including prenatal and preimplantation testing. (medscape.com)
  • Objective This study assessed the effectiveness of the oral lubricants Biotène Oral Balance® and Biotène Mouthwash® in individuals with epidermolysis bullosa. (bvsalud.org)
  • Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. (medscape.com)
  • Another term for this group of conditions is 'mechanobullous disease,' which distinguishes it from conditions that may appear superficially similar but are produced by autoimmune destruction of some of the same proteins that are defective in epidermolysis bullosa. (medicinenet.com)
  • citation needed] The combination of birch bark extract from Betula pendula and Betula pubescens is used to treat epidermolysis bullosa. (wikipedia.org)
  • What are the types of epidermolysis bullosa (EB)? (medicinenet.com)
  • All types of epidermolysis bullosa manifest with painful, inappropriate blistering. (msdmanuals.com)
  • Merriam-Webster.com Medical Dictionary , Merriam-Webster, https://www.merriam-webster.com/medical/epidermolysis%20bullosa%20simplex. (merriam-webster.com)
  • How do healthcare professionals diagnose epidermolysis bullosa? (medicinenet.com)