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.
An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.
A type I keratin that is found associated with the KERATIN-1 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-10 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC.
Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
Protein exotoxins from Staphylococcus aureus, phage type II, which cause epidermal necrolysis. They are proteins with a molecular weight of 26,000 to 32,000. They cause a condition variously called scaled skin, Lyell or Ritter syndrome, epidermal exfoliative disease, toxic epidermal necrolysis, etc.
A type II keratin that is found associated with the KERATIN-10 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-1 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC.
A neoplasm composed of squamous or epidermal cells.
A type II keratin found predominantly expressed in the terminally differentiated EPIDERMIS of palms and soles. Mutations in the gene for keratin 9 are associated with KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC.
Any horny growth such as a wart or callus.
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.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Specific substances elaborated by plants, microorganisms or animals that cause damage to the skin; they may be proteins or other specific factors or substances; constituents of spider, jellyfish or other venoms cause dermonecrosis and certain bacteria synthesize dermolytic agents.
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).
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
Skin diseases of the foot, general or unspecified.
Specific, characterizable, poisonous chemicals, often PROTEINS, with specific biological properties, including immunogenicity, produced by microbes, higher plants (PLANTS, TOXIC), or ANIMALS.
A cutaneous pouch of skin containing the testicles and spermatic cords.
Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
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 II keratin found expressed in the upper spinous layer of epidermal KERATINOCYTES. Mutations in genes that encode keratin-2A have been associated with ICHTHYOSIS BULLOSA OF SIEMENS.
'Skin diseases' is a broad term for various conditions affecting the skin, including inflammatory disorders, infections, benign and malignant tumors, congenital abnormalities, and degenerative diseases, which can cause symptoms such as rashes, discoloration, eruptions, lesions, itching, or pain.
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss.
A circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. It occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder.
A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)
Localized hyperplasia of the horny layer of the epidermis due to pressure or friction. (Dorland, 27th ed)
An oral retinoid effective in the treatment of psoriasis. It is the major metabolite of ETRETINATE with the advantage of a much shorter half-life when compared with etretinate.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)
Any inflammation of the skin.
Hand dermatoses is a general term referring to various inflammatory skin conditions primarily affecting the hands, such as eczema, psoriasis, and contact dermatitis, characterized by erythema, scaling, vesiculation, fissuring, or lichenification.
A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.
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.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. (1/51)

Bullous congenital ichthyosiform erythroderma (BCIE) is characterized by blistering and erythroderma in infancy and by erythroderma and ichthyosis thereafter. Epidermolytic hyperkeratosis is a hallmark feature of light and electron microscopy. Here we report on four individuals from two families with a unique clinical disorder with histological findings of epidermolytic hyperkeratosis. Manifesting erythema and superficial erosions at birth, which improved during the first few months of life, affected individuals later developed palmoplantar hyperkeratosis with patchy erythema and scale elsewhere on the body. Three affected individuals exhibit dramatic episodic flares of annular, polycyclic erythematous plaques with scale, which coalesce to involve most of the body surface. The flares last weeks to months. In the interim periods the skin may be normal, except for palmoplantar hyperkeratosis. Abnormal keratin-filament aggregates were observed in suprabasal keratinocytes from both probands, suggesting that the causative mutation might reside in keratin K1 or keratin K10. In one proband, sequencing of K1 revealed a heterozygous mutation, 1436T-->C, predicting a change of isoleucine to threonine in the highly conserved helix-termination motif. In the second family, a heterozygous mutation, 1435A-->T, was found in K1, predicting an isoleucine-to-phenylalanine substitution in the same codon. Both mutations were excluded in both a control population and all unaffected family members tested. These findings reveal that a clinical phenotype distinct from classic BCIE but with similar histology can result from K1 mutations and that mutations at this codon give rise to a clinically unique condition.  (+info)

A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. (2/51)

We report a mutation in a mild case of epidermolytic hyperkeratosis that results in a glutamic acid to aspartic acid substitution in a novel location, codon 477 or position 106 of the 2B rod domain of the keratin 1 chain. This residue has been conserved in all intermediate filament chains and lies near the beginning of the highly conserved helix termination sequence and just prior to the predicted molecular overlap region. Keratin filaments assembled in vitro from chains bearing this substitution are abnormal, indicating that the glutamic acid residue is critically involved in ionic interactions in intermediate levels of filament structure.  (+info)

A novel substitution in keratin 10 in epidermolytic hyperkeratosis. (3/51)

Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the molecular basis of epidermolytic hyperkeratosis. In this report we identify a novel, single base pair substitution resulting in an amino acid exchange from tyrosine to serine at residue 14 within the conserved 1A region of K10 (Y14S). This A to C transversion in codon 160 was only present in the affected individual and was associated with a very severe disease phenotype. Our observations are in agreement with previous reports documenting that this tyrosine residue, located at the beginning of the rod domain of type I keratins, is particularly sensitive to amino acid substitutions, and that alterations in this residue can have deleterious effects on filament assembly and stability.  (+info)

Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. (4/51)

Recently, we established keratin 10-deficient mice, serving as a model for the hyperkeratotic skin disorder epidermolytic hyperkeratosis. The considerable ichthyosis in these mice suggested alterations in terminal differentiation and in the formation of a functional epidermal barrier. Here, we report on the ultrastructural organization and composition of the stratum corneum lipids and on the expression of two major cornified envelope proteins. Electron microscopy of ruthenium tetroxide postfixed skin samples demonstrated a normal extrusion and morphology of lamellar bodies as well as the formation of bona fide lamellar layers in neonatal keratin 10-deficient mice. When we studied the composition of the major stratum corneum lipids, however, we found significant changes. Most importantly, the analysis of ceramide subpopulations revealed that the total amount of ceramide 2 was elevated in keratin 10-deficient mice, whereas ceramides 1, 3, 4, and 5 were decreased among total stratum corneum lipids. The amount of the ceramide precursors sphingomyelin and glucosylceramide was reduced in the stratum corneum without accompanying changes in the mRNA coding for acid sphingomyelinase. Notably, we found an increased mRNA and protein content for involucrin in neonatal keratin 10-deficient mice, whereas the expression of loricrin was not changed. Our data demonstrate that, although the formation of lipid layers in the stratum corneum appeared to be normal, its lipid composition is significantly altered in keratin 10-deficient mice.  (+info)

Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. (5/51)

Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers. While PLS cases have been identified throughout the world, HMS has only been described among descendants of a religious isolate originally from Cochin, India. Parental consanguinity is a characteristic of many cases of both conditions. Although autosomal recessive transmission of PLS is evident, a more "complex" autosomal recessive pattern of inheritance with phenotypic influences from a closely linked modifying locus has been hypothesised for HMS. Recently, mutations of the cathepsin C gene have been identified as the underlying genetic defect in PLS. To determine if a cathepsin C mutation is also responsible for HMS, we sequenced the gene in affected and unaffected subjects from the Cochin isolate in which both the PLS and HMS phenotypes appear. Here we report identification of a mutation of cathepsin C (exon 6, 2127A--> G) that changes a highly conserved amino acid in the cathepsin C peptide. This mutation segregates with HMS in four nuclear families. Additionally, the existence of a shared common haplotype for genetic loci flanking the cathepsin C gene suggests that affected subjects descended from the Cochin isolate are homozygous for a mutation inherited "identical by descent" from a common ancestor. This finding supports simple autosomal recessive inheritance for HMS in these families. We also report a mutation of the same exon 6 CTSC codon (2126C-->T) in a Turkish family with classical PLS. These findings provide evidence that PLS and HMS are allelic variants of cathepsin C gene mutations.  (+info)

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. (6/51)

Hyperkeratotic capillary-venous malformations (HCCVMs) are rare cutaneous lesions that occur in a small subgroup of patients with cerebral capillary malformation (CCM). CCMs cause neurological problems that range from headaches to life-threatening intracranial bleeding. CCMs and HCCVMs have a similar histopathological appearance of dilated capillary-venous channels. Genetic linkage of inherited CCMs has been established to three chromosomal loci, 3q25. 2-27, 7p13-15 and 7q21-22. The first mutations were identified in the CCM1 gene (located on 7q21-22), which encodes KRIT1 protein (KREV1 interaction trapped 1), presumably a membrane-bound protein with signalling activity. Although KRIT1 is known to interact with KREV1/RAP1A, a Ras-family GTPase, the exact function of KRIT1 in the formation of cerebral capillaries and veins is poorly understood. In this study, we screened five families with CCM for mutations in the KRIT1 gene. In one of the families, CCMs co-segregated with HCCVMs. We identified a KRIT1Delta(G103)mutation in this family, suggesting that this rare form of the condition is also caused by mutations in the CCM1 gene and that KRIT1 is probably important for cutaneous vasculature. Interestingly, this deletion introduces the earliest stop codon among identified mutations, suggesting a possible correlation between the molecular alteration and the cutaneous phenotype. Another novel mutation, KRIT1(IVS2+2(T-->C)), was found in a family with only cerebral capillary-venous malformations.  (+info)

Impaired cutaneous permeability barrier function, skin hydration, and sphingomyelinase activity in keratin 10 deficient mice. (7/51)

Point mutations in the suprabasal cytokeratins 1 (K1) or 10 (K10) in humans have been shown to be the cause of the congenital ichthyosis epidermolytic hyperkeratosis. Recently, a K10 deficient mouse model was established serving as a model for epidermolytic hyperkeratosis. Homozygotes suffered from severe skin fragility and died shortly after birth. Heterozygotes developed hyperkeratosis with age. To see whether phenotypic abnormalities in the mouse model were associated with changes in skin barrier function and skin water content we studied basal transepidermal water loss and capacity for barrier repair after experimental barrier disruption as well as stratum corneum hydration. Also, we determined the activities of acid and neutral sphingomyelinase key enzymes of the tumor necrosis factor and interleukin-1 signal transduction pathways generating the ceramides most important for epidermal permeability barrier homeostasis. Neonatal homozygotes showed an 8-fold increase in basal transepidermal water loss compared with wild type controls. Adult heterozygotes exhibited delayed barrier repair after experimental barrier disruption. Stratum corneum hydration was reduced in homozygous and heterozygous mice. Acid sphingomyelinase activity, which is localized in the epidermal lamellar bodies and generates ceramides for extracellular lipid lamellae in the stratum corneum permeability barrier, was reduced in homozygous as well as heterozygous animals. Neutral sphingomyelinase activity, which has a different location and generates ceramides involved in cell signaling, was increased. The reduction in acid sphingomyelinase activity may explain the recently described decreased ratio of ceramides to total lipids in K10 deficient mice. In summary, our results demonstrate the crucial role of the keratin filament for permeability barrier function and stratum corneum hydration.  (+info)

Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders. (8/51)

Stem cells are crucial for the formation and maintenance of tissues and organs. The role of stem cells in the pathogenesis of mosaic skin disorders remains unclear. To study the molecular and cellular basis of mosaicism, we established a mouse model for the autosomal-dominant skin blistering disorder, epidermolytic hyperkeratosis (MIM 113800), which is caused by mutations in either keratin K1 or K10. This genetic model allows activation of a somatic K10 mutation in epidermal stem cells in a spatially and temporally controlled manner using an inducible Cre recombinase. Our results indicate that lack of selective pressure against certain mutations in epidermal stem cells leads to mosaic phenotypes. This finding has important implications for the development of new strategies for somatic gene therapy of dominant genodermatoses.  (+info)

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.

Epidermolytic palmoplantar keratoderma is a rare genetic skin disorder that affects the palms and soles of the feet. It is characterized by thickening and scaling of the skin in these areas due to abnormal keratinization, which is the process of skin cell formation and shedding.

The term "epidermolytic" refers to the specific type of keratoderma that is caused by mutations in genes encoding for proteins involved in keratin filament assembly. These mutations lead to the formation of clumps of keratin protein, which disrupts the normal structure and function of the skin cells.

The symptoms of epidermolytic palmoplantar keratoderma typically appear in infancy or early childhood and may include:

* Thick, scaly, and fissured skin on the palms and soles
* Blistering and erosions of the affected areas
* Pain, itching, and difficulty walking or using the hands
* Increased susceptibility to infections

The condition is usually inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent. However, de novo mutations can also occur.

Treatment for epidermolytic palmoplantar keratoderma is primarily focused on managing symptoms and preventing complications. This may include:

* Emollients and moisturizers to keep the skin hydrated
* Topical keratolytics, such as salicylic acid or urea, to help exfoliate the thickened skin
* Protective padding or footwear to prevent blistering and injury
* Antibiotics to treat secondary infections

In severe cases, systemic retinoids or other medications may be used to reduce the severity of the symptoms. However, these treatments can have significant side effects and should be used with caution.

Keratin-10 is a type II keratin protein that is primarily expressed in the differentiated layers of stratified squamous epithelia, including the skin's epidermis. It plays a crucial role in providing structural support and protection to these epithelial tissues. Keratin-10 pairs with keratin-1 to form intermediate filaments, which are essential for maintaining the integrity and stability of epithelial cells. The expression of keratin-10 is often used as a marker for terminal differentiation in epidermal keratinocytes.

Keratoderma, palmoplantar is a medical term that refers to a group of skin conditions characterized by thickening and hardening (hyperkeratosis) of the skin on the palms of the hands and soles of the feet. This condition can affect people of all ages, but it's most commonly seen in children.

The thickening of the skin is caused by an overproduction of keratin, a protein that helps to form the tough, outer layer of the skin. In palmoplantar keratoderma, this excess keratin accumulates in the stratum corneum, the outermost layer of the epidermis, leading to the formation of rough, scaly, and thickened patches on the palms and soles.

There are several different types of palmoplantar keratoderma, each with its own specific symptoms and causes. Some forms of the condition are inherited and present at birth or develop in early childhood, while others may be acquired later in life as a result of an underlying medical condition, such as atopic dermatitis, lichen planus, or psoriasis.

Treatment for palmoplantar keratoderma typically involves the use of emollients and keratolytic agents to help soften and remove the thickened skin. In some cases, oral retinoids or other systemic medications may be necessary to manage more severe symptoms. It's important to consult with a healthcare provider for an accurate diagnosis and treatment plan.

I'm sorry for any confusion, but "Exfoliatins" is not a recognized medical term or a known medical condition. It seems like there might be a spelling mistake or a mix-up with the terminology. Exfoliation refers to the natural process of shedding dead skin cells from the surface of the skin. If you have any specific concerns about skin issues or other health problems, I would recommend consulting a healthcare professional for accurate information and advice tailored to your situation.

Keratin-1 is a type of keratin protein that is primarily expressed in the differentiated cells of epithelial tissues, such as the hair follicles and the outermost layer of the skin (epidermis). It is a structural protein that provides strength and rigidity to these cells. In the hair follicle, keratin-1 is found in the cortex of the hair shaft where it contributes to the hair's overall structure and stability. It is also a key component of the outermost layer of the skin (stratum corneum) where it helps to form a protective barrier against external stressors such as chemicals, microorganisms, and physical damage.

An acanthoma is a benign skin tumor characterized by the proliferation of epidermal cells, specifically the pickle cell layer (stratum spinosum). The term "acanthoma" comes from the Greek word "akantha," which means "thorn" or "spine."

There are several types of acanthomas, including:

1. Seborrheic keratosis: Also known as seborrheic warts, these are common benign growths that appear as rough, scaly patches on the skin. They can be tan, brown, or black and may have a waxy or greasy appearance.
2. Benign lichenoid keratosis: These are small, flat lesions with a scaly surface that typically occur on sun-exposed areas of the skin. They are usually asymptomatic but may occasionally itch.
3. Psoriasiform acanthoma: This is a rare type of acanthoma that resembles psoriasis, a chronic skin condition characterized by red, scaly patches.
4. Clear cell acanthoma: This is a distinctive type of acanthoma that appears as a solitary, dome-shaped nodule with a smooth surface and a central crust. It typically occurs on the lower legs of older adults.

Acanthomas are generally harmless and do not require treatment unless they become irritated or unsightly. In such cases, they can be removed through various methods, including cryosurgery (freezing), curettage (scraping), or excision (cutting).

Keratin-9 is not a well-known or widely studied type of keratin. According to available scientific literature, it is one of the many types of keratins that are expressed in certain tissues, such as the nails and hair. However, there is limited information available specifically about Keratin-9's medical definition, structure, or function.

Keratins are a family of fibrous proteins that provide structural support to epithelial cells, which line the outer surfaces of organs and blood vessels, as well as the inner surfaces of various body structures, such as the respiratory and digestive tracts. They are essential for maintaining the integrity and resilience of these tissues, particularly in areas exposed to mechanical stress or environmental damage.

In summary, while Keratin-9 is a recognized member of the keratin family, there is limited information available about its specific medical definition or role.

Keratosis, in general, refers to a skin condition characterized by the abnormal growth or development of keratin, a protein that forms part of the outer layer of the skin (epidermis). There are several types of keratosis, including:

1. Seborrheic Keratosis: benign, often pigmented, rough, and scaly growths that can appear anywhere on the body. They tend to increase in number with age.
2. Actinic Keratosis: rough, scaly patches or spots on the skin that are caused by long-term exposure to sunlight or artificial UV light. These have the potential to develop into squamous cell carcinoma, a type of skin cancer.
3. Solar Keratosis: another term for actinic keratosis, as it is primarily caused by sun damage.
4. Keratosis Pilaris: a common condition where small, rough bumps appear on the skin, often on the arms, thighs, or cheeks. These are caused by excess keratin blocking hair follicles.
5. Follicular Keratosis: a disorder characterized by the formation of horny plugs within the hair follicles, leading to rough, sandpaper-like bumps on the skin.
6. Intraepidermal Keratosis: a term used to describe the abnormal accumulation of keratin in the epidermis, which can lead to various skin conditions.

It's important to consult with a healthcare professional or dermatologist for proper diagnosis and treatment if you suspect having any form of keratosis.

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.

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.

Ichthyosis is a group of skin disorders that are characterized by dry, thickened, scaly skin. The name "ichthyosis" comes from the Greek word "ichthys," which means fish, as the skin can have a fish-like scale appearance. These conditions can be inherited or acquired and vary in severity.

The medical definition of ichthyosis is a heterogeneous group of genetic keratinization disorders that result in dry, thickened, and scaly skin. The condition may affect any part of the body, but it most commonly appears on the extremities, scalp, and trunk. Ichthyosis can also have associated symptoms such as redness, itching, and blistering.

The severity of ichthyosis can range from mild to severe, and some forms of the condition may be life-threatening in infancy. The exact symptoms and their severity depend on the specific type of ichthyosis a person has. Treatment for ichthyosis typically involves moisturizing the skin, avoiding irritants, and using medications to help control scaling and inflammation.

Dermatotoxins are substances that can cause damage or irritation to the skin. They are typically toxic chemicals or venoms that can produce a range of reactions when they come into contact with the skin, such as redness, swelling, itching, blistering, and necrosis (tissue death).

Dermatotoxins can be found in various sources, including certain plants, animals, and synthetic compounds. For example, some snakes and insects produce venoms that contain dermatotoxic components, while certain chemicals used in industrial processes or agricultural applications can also have dermatotoxic effects.

Exposure to dermatotoxins can occur through various routes, such as direct contact with the skin, inhalation, or ingestion. In some cases, dermatotoxins can cause systemic effects if they are absorbed into the bloodstream through the skin.

If you suspect exposure to a dermatotoxin, it is important to seek medical attention promptly. Treatment may include washing the affected area with soap and water, applying topical creams or ointments, and in some cases, administering antivenom or other medications to counteract the toxic effects.

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.

Stevens-Johnson Syndrome (SJS) is a rare, serious and potentially life-threatening skin reaction that usually occurs as a reaction to medication but can also be caused by an infection. SJS is characterized by the detachment of the epidermis (top layer of the skin) from the dermis (the layer underneath). It primarily affects the mucous membranes, such as those lining the eyes, mouth, throat, and genitals, causing painful raw areas that are prone to infection.

SJS is considered a severe form of erythema multiforme (EM), another skin condition, but it's much more serious and can be fatal. The symptoms of SJS include flu-like symptoms such as fever, sore throat, and fatigue, followed by a red or purplish rash that spreads and blisters, eventually leading to the detachment of the top layer of skin.

The exact cause of Stevens-Johnson Syndrome is not always known, but it's often triggered by medications such as antibiotics, anti-convulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), and antiretroviral drugs. Infections caused by herpes simplex virus or Mycoplasma pneumoniae can also trigger SJS.

Treatment for Stevens-Johnson Syndrome typically involves hospitalization, supportive care, wound care, and medication to manage pain and prevent infection. Discontinuing the offending medication is crucial in managing this condition. In severe cases, patients may require treatment in a burn unit or intensive care unit.

Foot dermatoses refer to various skin conditions that affect the feet. These can include inflammatory conditions like eczema and psoriasis, infectious diseases such as athlete's foot (tinea pedis), fungal infections, bacterial infections, viral infections (like plantar warts caused by HPV), and autoimmune blistering disorders. Additionally, contact dermatitis from irritants or allergens can also affect the feet. Proper diagnosis is essential to determine the best course of treatment for each specific condition.

Biological toxins are poisonous substances that are produced by living organisms such as bacteria, plants, and animals. They can cause harm to humans, animals, or the environment. Biological toxins can be classified into different categories based on their mode of action, such as neurotoxins (affecting the nervous system), cytotoxins (damaging cells), and enterotoxins (causing intestinal damage).

Examples of biological toxins include botulinum toxin produced by Clostridium botulinum bacteria, tetanus toxin produced by Clostridium tetani bacteria, ricin toxin from the castor bean plant, and saxitoxin produced by certain types of marine algae.

Biological toxins can cause a range of symptoms depending on the type and amount of toxin ingested or exposed to, as well as the route of exposure (e.g., inhalation, ingestion, skin contact). They can cause illnesses ranging from mild to severe, and some can be fatal if not treated promptly and effectively.

Prevention and control measures for biological toxins include good hygiene practices, vaccination against certain toxin-producing bacteria, avoidance of contaminated food or water sources, and personal protective equipment (PPE) when handling or working with potential sources of toxins.

The scrotum is a part of the external male genitalia. It's a sac-like structure made up of several layers of skin and smooth muscle, which hangs down behind and beneath the penis. The primary function of the scrotum is to maintain the testicles at a temperature slightly lower than the core body temperature, which is optimal for sperm production.

The scrotum contains two compartments, each one housing a testicle. It's located in the pubic region and is usually visible externally. The skin of the scrotum is thin and wrinkled, which allows it to expand and contract depending on the temperature, accommodating the shrinking or swelling of the testicles.

Please note that while I strive to provide accurate information, this definition is intended to be a general overview and should not replace professional medical advice.

Papillon-Lefèvre disease is a rare autosomal recessive genetic disorder that affects the skin and teeth. It is characterized by the early onset of severe periodontitis (inflammation of the tissues surrounding the teeth) leading to premature loss of primary and permanent teeth, and palmoplantar keratosis (thickening and hardening of the palms and soles).

The disease is caused by mutations in the gene for the protein cathepsin C (CTSC), which plays a role in the immune system's response to bacterial infections. The mutation leads to an impaired ability to fight off bacteria that cause periodontal disease, resulting in severe destruction of the periodontal tissues and premature loss of teeth.

The palmoplantar keratosis typically appears during early childhood as rough, scaly patches on the palms and soles, which may be prone to infection and painful fissures. Other skin manifestations may include hyperkeratotic lesions on the knees and elbows.

There is no cure for Papillon-Lefèvre disease, but treatment can help manage its symptoms. Good oral hygiene, regular dental checkups, and periodontal treatments are essential to prevent or slow down the progression of periodontitis. Topical keratolytic agents or systemic retinoids may be used to treat the palmoplantar keratosis.

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.

I'm sorry for any confusion, but "Keratin-2" is not a widely recognized or established medical term. Keratins are a large family of fibrous structural proteins that are a major component in the cells that make up the outer layer of skin, hair, and nails. However, there isn't a specific keratin type that is commonly referred to as "Keratin-2."

If you have any more context or information about where you encountered this term, I'd be happy to help you try to understand it better!

Skin diseases, also known as dermatological conditions, refer to any medical condition that affects the skin, which is the largest organ of the human body. These diseases can affect the skin's function, appearance, or overall health. They can be caused by various factors, including genetics, infections, allergies, environmental factors, and aging.

Skin diseases can present in many different forms, such as rashes, blisters, sores, discolorations, growths, or changes in texture. Some common examples of skin diseases include acne, eczema, psoriasis, dermatitis, fungal infections, viral infections, bacterial infections, and skin cancer.

The symptoms and severity of skin diseases can vary widely depending on the specific condition and individual factors. Some skin diseases are mild and can be treated with over-the-counter medications or topical creams, while others may require more intensive treatments such as prescription medications, light therapy, or even surgery.

It is important to seek medical attention if you experience any unusual or persistent changes in your skin, as some skin diseases can be serious or indicative of other underlying health conditions. A dermatologist is a medical doctor who specializes in the diagnosis and treatment of skin diseases.

Lamellar Ichthyosis is a rare, inherited genetic skin disorder characterized by widespread, persistent scaling of the skin. It is caused by mutations in genes responsible for maintaining the barrier function and hydration of the skin. The condition is present from birth and can vary in severity.

In lamellar ichthyosis, the skin cells do not shed properly and instead accumulate in plates or scales that cover the entire body. These scales are large, dark brown or gray, and have a cracked appearance, resembling fish scales. The scales may be present at birth (congenital) or develop within the first few weeks of life.

The skin is also prone to redness, irritation, and infection due to the impaired barrier function. Other symptoms can include overheating, dehydration, and difficulty with sweating. The condition may improve in warmer, more humid environments.

Treatment for lamellar ichthyosis is aimed at managing symptoms and preventing complications. This may include topical creams and ointments to moisturize the skin, medications to reduce inflammation and infection, and avoiding environmental triggers that can worsen symptoms. In some cases, oral retinoids may be prescribed to help regulate skin cell growth and shedding.

Susac syndrome, also known as retinocochleocerebral vasculopathy, is a rare autoimmune disorder characterized by the inflammation and damage to small blood vessels in the brain, retina, and inner ear. It primarily affects young adults, particularly women, and can lead to various neurological, auditory, and visual symptoms.

The medical definition of Susac syndrome includes:

1. Encephalopathy (brain dysfunction) - This is characterized by headaches, cognitive impairment, behavioral changes, seizures, or psychiatric symptoms due to inflammation in the brain.
2. Branch retinal artery occlusions (BRAO) - These are blockages of small blood vessels in the retina, leading to visual disturbances such as blurry vision, scotomas (blind spots), or even permanent vision loss.
3. Sensorineural hearing loss - This is caused by damage to the inner ear structures responsible for hearing, resulting in difficulties with hearing, tinnitus (ringing in the ears), or vertigo (dizziness).

The triad of these symptoms is necessary for a definitive diagnosis of Susac syndrome. However, not all patients may present with all three components simultaneously. The presence of any two features should raise suspicion for this condition, and further diagnostic workup is required to confirm the diagnosis. Early recognition and treatment are crucial to prevent long-term complications and improve outcomes in patients with Susac syndrome.

Acanthosis nigricans is a medical condition characterized by the darkening and thickening of the skin in certain areas of the body. These areas typically include the back of the neck, armpits, groin, and skin folds. The skin becomes velvety to touch, and may have a "dirty" appearance.

The condition is often associated with insulin resistance, which can be a sign of type 2 diabetes or prediabetes. It can also be linked to obesity, hormonal imbalances, certain medications, and some rare genetic syndromes.

In addition to the changes in skin color and texture, people with acanthosis nigricans may also experience itching, odor, or discomfort in the affected areas. Treatment typically involves addressing the underlying cause of the condition, such as managing diabetes or losing weight. Topical treatments may also be used to improve the appearance of the skin.

Bowen's disease is a skin condition that is characterized by the growth of abnormal cells on the outermost layer of the skin (the epidermis). It is also known as squamous cell carcinoma in situ. The affected area often appears as a red, scaly patch or plaque, and it can develop anywhere on the body, but it is most commonly found on sun-exposed areas such as the face, hands, arms, and legs.

Bowen's disease is considered a precancerous condition because there is a risk that the abnormal cells could eventually develop into invasive squamous cell carcinoma, a type of skin cancer. However, not all cases of Bowen's disease will progress to cancer, and some may remain stable or even regress on their own.

The exact cause of Bowen's disease is not known, but it is thought to be associated with exposure to certain chemicals, radiation, and human papillomavirus (HPV) infection. Treatment options for Bowen's disease include cryotherapy, topical chemotherapy, photodynamic therapy, curettage and electrodessication, and surgical excision. Regular follow-up with a healthcare provider is recommended to monitor the condition and ensure that it does not progress to cancer.

Callosities are areas of thickened and hardened skin that develop as a result of repeated friction, pressure, or irritation. They typically appear on the hands and feet, particularly on the palms and soles, and can vary in size and shape. Callosities are not harmful but can cause discomfort or pain if they become too thick or develop cracks or sores. They are often seen in people who have jobs or hobbies that involve manual labor or frequent use of their hands, such as musicians, athletes, and construction workers.

Acitretin is a synthetic form of retinoic acid, which is a type of vitamin A. It is used to treat severe psoriasis and other skin conditions. Acitretin works by slowing down the rapid growth of skin cells that cause the symptoms of psoriasis. It comes in the form of a capsule and is taken orally.

Common side effects of acitretin include dryness of the skin, lips, and mouth, itching, peeling, redness, or stickiness of the palms and soles, hair loss, and changes in nail growth. Less common but more serious side effects can include liver damage, increased levels of lipids in the blood, and birth defects if taken during pregnancy.

It is important to note that acitretin can cause birth defects, so women who are pregnant or planning to become pregnant should not take this medication. Additionally, because acitretin can remain in the body for a long time, it is recommended that women of childbearing age use effective contraception while taking this medication and for at least three years after stopping it.

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.

A papilloma is a benign (noncancerous) tumor that grows on a stalk, often appearing as a small cauliflower-like growth. It can develop in various parts of the body, but when it occurs in the mucous membranes lining the respiratory, digestive, or genitourinary tracts, they are called squamous papillomas. The most common type is the skin papilloma, which includes warts. They are usually caused by human papillomavirus (HPV) infection and can be removed through various medical procedures if they become problematic or unsightly.

Dermatitis is a general term that describes inflammation of the skin. It is often characterized by redness, swelling, itching, and tenderness. There are many different types of dermatitis, including atopic dermatitis (eczema), contact dermatitis, seborrheic dermatitis, and nummular dermatitis.

Atopic dermatitis is a chronic skin condition that often affects people with a family history of allergies, such as asthma or hay fever. It typically causes dry, scaly patches on the skin that can be extremely itchy.

Contact dermatitis occurs when the skin comes into contact with an irritant or allergen, such as poison ivy or certain chemicals. This type of dermatitis can cause redness, swelling, and blistering.

Seborrheic dermatitis is a common condition that causes a red, itchy rash, often on the scalp, face, or other areas of the body where oil glands are located. It is thought to be related to an overproduction of oil by the skin's sebaceous glands.

Nummular dermatitis is a type of eczema that causes round, coin-shaped patches of dry, scaly skin. It is more common in older adults and often occurs during the winter months.

Treatment for dermatitis depends on the underlying cause and severity of the condition. In some cases, over-the-counter creams or lotions may be sufficient to relieve symptoms. Prescription medications, such as corticosteroids or immunosuppressants, may be necessary in more severe cases. Avoiding triggers and irritants can also help prevent flare-ups of dermatitis.

Hand dermatoses is a general term used to describe various inflammatory skin conditions that affect the hands. These conditions can cause symptoms such as redness, swelling, itching, blistering, scaling, and cracking of the skin on the hands. Common examples of hand dermatoses include:

1. Irritant contact dermatitis: A reaction that occurs when the skin comes into contact with irritants such as chemicals, soaps, or detergents.
2. Allergic contact dermatitis: A reaction that occurs when the skin comes into contact with allergens, such as nickel, rubber, or poison ivy.
3. Atopic dermatitis (eczema): A chronic skin condition characterized by dry, itchy, and inflamed skin.
4. Psoriasis: A chronic skin condition characterized by red, scaly patches that can occur anywhere on the body, including the hands.
5. Dyshidrotic eczema: A type of eczema that causes small blisters to form on the sides of the fingers, palms, and soles of the feet.
6. Lichen planus: An inflammatory skin condition that can cause purple or white patches to form on the hands and other parts of the body.
7. Scabies: A contagious skin condition caused by mites that burrow into the skin and lay eggs, causing intense itching and a rash.

Treatment for hand dermatoses depends on the specific diagnosis and may include topical creams or ointments, oral medications, phototherapy, or avoidance of triggers.

Angiokeratoma is a cutaneous condition characterized by the presence of small, dilated blood vessels (capillaries) in the upper dermis, which are covered by thickened epidermis. These lesions appear as dark red to black papules or plaques on the skin surface. They can occur spontaneously or as a result of an underlying medical condition such as Fabry disease. Angiokeratomas are typically asymptomatic but may occasionally cause mild discomfort or itching. They most commonly affect the lower extremities, particularly the buttocks and genital region, but can also appear on other parts of the body.

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.

562 It is possible to classify epidermolytic hyperkeratosis based upon palm and sole hyperkeratosis. This is a dominant genetic ... ISBN 0-7216-2921-0. DiGiovanna JJ, Bale SJ (August 1994). "Clinical heterogeneity in epidermolytic hyperkeratosis". Arch ... also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform ... "Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry ...
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Explore symptoms, inheritance, genetics of this ... Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick ... medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/ Epidermolytic hyperkeratosis. ... However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group. ...
... : A Case Report and Review of an Underappreciated Disorder of ... Cite this: Localized Epidermolytic Hyperkeratosis of the Female Genitalia: A Case Report and Review of an Underappreciated ... In the realm of pathology, epidermolytic hyperkeratosis (EHK) refers to a distinct histologic pattern. This pattern was first ... Histologic examination demonstrated an exophytic papule with hyperkeratosis, papillomatosis, and acanthosis of the epidermis, ...
... formerly known as epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma (bullous CIE), is a rare ... Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma)) and Epidermolytic Ichthyosis (Epidermolytic ... Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) * Sections ... Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) Medication. Updated: ...
Epidermolytic Hyperkeratosis Mallory L Foster 1 , Jordan M Jones 2 , Courtney R Schadt 2 ... Epidermolytic hyperkeratosis. Bale SJ, Compton JG, DiGiovanna JJ. Bale SJ, et al. Semin Dermatol. 1993 Sep;12(3):202-9. Semin ... Systematized linear epidermolytic hyperkeratosis. Kumar P, Kumar R, Mandal RK, Hassan S. Kumar P, et al. Dermatol Online J. ... Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. Blalock TW, Teague D, Sheehan DJ. Blalock TW, ...
... formerly known as epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma (bullous CIE), is a rare ... Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma)) and Epidermolytic Ichthyosis (Epidermolytic ... Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) * Sections ... Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma). Updated: Oct 08, 2021 ...
Epidermolytic hyperkeratosis. Dozens of mutations in the KRT10 gene have been found in people with epidermolytic hyperkeratosis ... Cyclic ichthyosis with epidermolytic hyperkeratosis is another skin disorder caused by mutations in the KRT10 gene. This ... People with KRT10 gene mutations typically have NPS-type epidermolytic hyperkeratosis, which features thick skin on many parts ... Most KRT10 gene mutations associated with epidermolytic hyperkeratosis change a single protein building block (amino acid) in ...
... formerly known as epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma (bullous CIE), is a rare ... Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma)) and Epidermolytic Ichthyosis (Epidermolytic ... Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) * Sections ... Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma). Updated: Oct 08, 2021 ...
Epidermolytic Hyperkeratosis Epidermolytic Hyperkeratosis is a skin disorder that causes the skin to be fragile and easily ... Hereditary Footpad Hyperkeratosis Hereditary Footpad Hyperkeratosis (HFH) is a skin disorder, with disease signs including hard ... Focal Non-Epidermolytic Palmoplantar Keratoderma Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK) is an inherited skin ... Palmoplantar Hyperkeratosis (Discovered in the Rottweiler) Palmoplantar Hyperkeratosis is an inherited skin disorder ...
Hyperkeratosis, epidermolytic, see Epidermolytic hyperkeratosis. *Hyperkinetic disorder, see Attention-deficit/hyperactivity ...
9. Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis).. Ishida-Yamamoto A; Eady RA; Underwood RA; ... A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ... Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.. Lacz NL; Schwartz RA; Kihiczak G. Int J Dermatol; 2005 Jan; ... 5. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of ...
Find support organizations and financial resources for Autosomal dominant epidermolytic ichthyosis. ... Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq typeBCIE; Bullous congenital ichthyosiform erythroderma; Bullous ... Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type. Read More ... Autosomal dominant epidermolytic ichthyosis. Other Names: BCIE; Bullous congenital ichthyosiform erythroderma; Bullous ...
Categories: Hyperkeratosis, Epidermolytic Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet 15(7):1133-114116505000. Crossref, ... Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. J Invest Dermatol 117(4):837-84711676820 ... but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. J Invest Dermatol ...
Epidermolytic Hyperkeratosis (EHK) Linear Epidermal Naevus (LEN) - Mosaic EHK Ichthyosis Bullosa of Siemens (IBS) Epidermolytic ...
... epidermolytic hyperkeratosis); keratin 1, type II; keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris); ... epidermolytic hyperkeratosis 1; epithelial keratin 1; epithelial keratin 10; epithelial keratin 2e; Epithelial keratin-1; ... focal non-epidermolytic palmoplantar keratoderma); keratin 16, type I; keratin 17, type I; keratin 18, type I; keratin 19, type ... Epithelial keratin-10; Epithelial keratin-2e; focal non-epidermolytic palmoplantar keratoderma; Hair alpha protein; HMWCK; Hom ...
Epidermolytic hyperkeratosis + Ichthyosis acquisita + Keratosis palmoplantaris, palmoplantar keratoderma + Ectodermal dysplasia ...
... and epidermolytic hyperkeratosis. (Search under each name for more information on that disorder in the Rare Disease Database.) ...
12% epidermolytic hyperkeratosis. 4% Netherton syndrome. 43% other. Data analyses were done to determine which factors most ... This study proposes that the lifelong hyperkeratosis, primarily manifested as pruritus, xerosis, and scaly skin, that affects ...
A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell ... epidermolytic hyperkeratosis) (Chipev et al., 1992; Whittock et al., 2001), and there are several examples of mutations in the ...
Epidermolytic ichthyosis (EI) (formerly epidermolytic hyperkeratosis) (OMIM 113800). AD. AR 4. *. Skin fragility, blistering ... KRT1-related epidermolytic ichthyosis (EI) is inherited in an autosomal dominant manner; KRT10-related EI is inherited in ... Superficial epidermolytic ichthyosis (SEI) (formerly ichthyosis bullosa of Siemens) (OMIM 146800). AD. ... The most severely affected skin is the scalp, often with cobblestone-like hyperkeratosis. Neonates suffer from severe, ...
These diseases are characterized by keratinocytes fragility (cytolysis), intra-epidermal blistering, hyperkeratosis, and ... epidermolytic ichthyosis (EI; K1, K10) and ichthyosis bullosa of Siemens (IBS; K2), pachyonychia congenita (PC; K6a, K6b, K16, ... K17), epidermolytic palmo-plantar keratoderma (EPPK; K9, (K1)), monilethrix (K81, K83, K86), ectodermal dysplasia (ED; K85) and ...
Hyperkeratosis, Epidermolytic 1 0 Hyperplasia 1 0 Inflammation 1 1 Keratosis, Actinic 1 0 ...
Patients with epidermolytic hyperkeratosis may need treatment with cloxacillin 250 mg orally 3 or 4 times a day or erythromycin ... This disorder is also called bullous congenital ichthyosiform erythroderma, or epidermolytic hyperkeratosis. Mutations are ... epidermolytic hyperkeratosis], harlequin ichthyosis). Other ichthyoses are part of a syndrome that involves multiple organs. ...
Epidermolytic_Hyperkeratosis,create,29-SEP-06,(null),(null) C27516,Epidermolytic_Acanthoma,modify,29-SEP-06,(null),(null) C4087 ... Epidermolytic_Hyperkeratosis,create,29-SEP-06,(null),(null) C27516,Epidermolytic_Acanthoma,modify,29-SEP-06,(null),(null) C4087 ...
He suffers from a disease called Epidermolytic hyperkeratosis, which has changed his skin into that of a crocodile, hence his ...
Inherited ichthyoses (ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform ... Diffuse marked hyperkeratosis of bilateral palms with focal thickening around finger joints and distal palms.. +44 More images ... Vorner (epidermolytic) PPK and Unna-Thost (nonepidermolytic) PPK are the result of keratin mutations and show waxy or verrucous ... Focal acral hyperkeratosis and acrokeratoelastoidosis present as 2-4 mm papules (some umbilicated) at the marginal borders of ...

No FAQ available that match "hyperkeratosis epidermolytic"

No images available that match "hyperkeratosis epidermolytic"