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.
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.
Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.
Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.
An arylsulfatase with high specificity towards sulfated steroids. Defects in this enzyme are the cause of ICHTHYOSIS, X-LINKED.
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.
Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1.
Agents that soften, separate, and cause desquamation of the cornified epithelium or horny layer of skin. They are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases.
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.
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.
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Transglutaminases catalyze cross-linking of proteins at a GLUTAMINE in one chain with LYSINE in another chain. They include keratinocyte transglutaminase (TGM1 or TGK), tissue transglutaminase (TGM2 or TGC), plasma transglutaminase involved with coagulation (FACTOR XIII and FACTOR XIIIa), hair follicle transglutaminase, and prostate transglutaminase. Although structures differ, they share an active site (YGQCW) and strict CALCIUM dependence.
An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.
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.
Sulfatases are a group of enzymes that catalyze the hydrolysis of sulfate ester bonds in various substrates, playing crucial roles in the metabolism and homeostasis of carbohydrates, proteoglycans, neurotransmitters, and steroid hormones within the body.
Presence of less than the normal amount of hair. (Dorland, 27th ed)
Genes that influence the PHENOTYPE only in the homozygous state.
The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (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.
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).
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).
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.
Oleagenous substances used topically to soothe, soften or protect skin or mucous membranes. They are used also as vehicles for other dermatologic agents.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
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.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
An oral retinoid used in the treatment of keratotic genodermatosis, lichen planus, and psoriasis. Beneficial effects have also been claimed in the prophylaxis of epithelial neoplasia. The compound may be teratogenic.
The magnitude of INBREEDING in humans.
Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
An enzyme that catalyzes the acyl group transfer of ACYL COA to 1-acyl-sn-glycerol 3-phosphate to generate 1,2-diacyl-sn-glycerol 3-phosphate. This enzyme has alpha, beta, gamma, delta and epsilon subunits.
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.
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
An enzyme that catalyzes the oxidation of arachidonic acid to yield 12-hydroperoxyarachidonate (12-HPETE) which is itself rapidly converted by a peroxidase to 12-hydroxy-5,8,10,14-eicosatetraenoate (12-HETE). The 12-hydroperoxides are preferentially formed in PLATELETS.
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.
The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)
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.
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Drugs used to treat or prevent skin disorders or for the routine care of skin.
Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.
A cystatin subtype that has a diverse tissue distribution, target specificity, and functions as an endogenous inhibitor of lysosomal cysteine proteases.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. (1/179)

Gaucher disease is an autosomal recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal hydrolase, acid beta-glucosidase. Three phenotypically distinct subtypes result from different acid beta-glucosidase mutations encoding enzymes with absent or low activity. A severe neonatal type 2 variant who presented with collodion skin, ichthyosis, and a rapid neurodegenerative course had two novel acid beta-glucosidase alleles: a complex, maternally derived allele, E326K+L444P, and a paternally inherited nonsense mutation, E233X. Because the only other non-pseudogene-derived complex allele, D140H+E326K, also had the E326K lesion and was reported in a mild type 1 patient with a D140H+E326K/K157Q genotype, these complex alleles and their individual mutations were expressed and characterized. Because the E233X mutation expressed no activity and the K157Q allele had approximately 1% normal specific activity based on cross-reacting immunologic material (CRIM SA) in the baculovirus system, the residual activity in both patients was primarily from their complex alleles. In the type 1 patient, the D140H+E326K allele was neuroprotective, encoding an enzyme with a catalytic efficiency similar to that of the N370S enzyme. In contrast, the E326K+L444P allele did not have sufficient activity to protect against the neurologic manifestations and, in combination with the inactive E233X lesion, resulted in the severe neonatal type 2 variant. Thus, characterization of these novel genotypes with non-pseudogene-derived complex mutations provided the pathogenic basis for their diverse phenotypes.  (+info)

A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. (2/179)

Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and the lysis of keratinocytes is restricted to the upper spinous and granular layers of the epidermis of IBS patients, whereas in EHK lysis occurs in the lower spinous layer. Recently, mutations in the helix initiation and termination motifs of keratin 2e (K2e) have been described in IBS patients. The majority of the mutations reported to date lie in the 2B region. In this report, we have examined a large kindred in which the disease was originally diagnosed as EHK and mapped to the type II keratin cluster on chromosome 12q. Molecular analysis revealed a novel amino acid substitution at the beginning of the conserved 1A region of the rod domain (I4N) of K2e, resulting from a T to A transversion in codon 188.  (+info)

Bricks and mortar of the epidermal barrier. (3/179)

A specialized tissue type, the keratinizing epithelium, protects terrestrial mammals from water loss and noxious physical, chemical and mechanical insults. This barrier between the body and the environment is constantly maintained by reproduction of inner living epidermal keratinocytes which undergo a process of terminal differentiation and then migrate to the surface as interlocking layers of dead stratum corneum cells. These cells provide the bulwark of mechanical and chemical protection, and together with their intercellular lipid surroundings, confer water-impermeability. Much of this barrier function is provided by the cornified cell envelope (CE), an extremely tough protein/lipid polymer structure formed just below the cytoplasmic membrane and subsequently resides on the exterior of the dead cornified cells. It consists of two parts: a protein envelope and a lipid envelope. The protein envelope is thought to contribute to the biomechanical properties of the CE as a result of cross-linking of specialized CE structural proteins by both disulfide bonds and N(epsilon)-(gamma-glutamyl)lysine isopeptide bonds formed by transglutaminases. Some of the structural proteins involved include involucrin, loricrin, small proline rich proteins, keratin intermediate filaments, elafin, cystatin A, and desmosomal proteins. The lipid envelope is located on the exterior of and covalently attached by ester bonds to the protein envelope and consists of a monomolecular layer of omega-hydroxyceramides. These not only serve of provide a Teflon-like coating to the cell, but also interdigitate with the intercellular lipid lamellae perhaps in a Velcro-like fashion. In fact the CE is a common feature of all stratified squamous epithelia, although its precise composition, structure and barrier function requirements vary widely between epithelia. Recent work has shown that a number of diseases which display defective epidermal barrier function, generically known as ichthyoses, are the result of genetic defects of the synthesis of either CE proteins, the transglutaminase 1 cross-linking enzyme, or defective metabolism of skin lipids.  (+info)

A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation. (4/179)

Transglutaminases (TGases) are defined as enzymes capable of forming isopeptide bonds by transfer of an amine onto glutaminyl residues of a protein. Here we show that the membrane-bound form of the TGase 1 enzyme can also form ester bonds between specific glutaminyl residues of human involucrin and a synthetic analog of epidermal specific omega-hydroxyceramides. The formation of a approximately 5-nm-thick lipid envelope on the surface of epidermal keratinocytes is an important component of normal barrier function. The lipid envelope consists of omega-hydroxyceramides covalently linked by ester bonds to cornified envelope proteins, most abundantly to involucrin. We synthesized an analog of natural omega-hydroxyceramides N-[16-(16-hydroxyhexadecyl)oxypalmitoyl]sphingosine (lipid Z). When recombinant human TGase 1 and involucrin were reacted on the surface of synthetic lipid vesicles containing lipid Z, lipid Z was attached to involucrin and formed saponifiable protein-lipid adducts. By mass spectroscopy and sequencing of tryptic lipopeptides, the ester linkage formation used involucrin glutamine residues 107, 118, 122, 133, and 496 by converting the gamma-carboxamido groups to lipid esters. Several of these residues have been found previously to be attached to ceramides in vivo. Mass spectrometric analysis after acetonide derivatization also revealed that ester formation involved primarily the omega-hydroxyl group of lipid Z. Our data reveal a dual role for TGase 1 in epidermal barrier formation and provide insights into the pathophysiology of lamellar ichthyosis resulting from defects of TGase 1 enzyme.  (+info)

Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. (5/179)

Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene. XPD encodes a helicase subunit of the dually functional DNA repair/basal transcription complex TFIIH. The pleiotropic disease phenotype is hypothesized to be, in part, derived from a repair defect causing UV sensitivity and, in part, from a subtle, viable basal transcription deficiency accounting for the cutaneous, developmental, and the typical brittle hair features of TTD. To understand the relationship between deficient NER and tumor susceptibility, we used a mouse model for TTD that mimics an XPD point mutation of a TTD patient in the mouse germline. Like the fibroblasts from the patient, mouse cells exhibit a partial NER defect, evident from the reduced UV-induced DNA repair synthesis (residual repair capacity approximately 25%), limited recovery of RNA synthesis after UV exposure, and a relatively mild hypersensitivity to cell killing by UV or 7,12-dimethylbenz[a]anthracene. In accordance with the cellular studies, TTD mice exhibit a modestly increased sensitivity to UV-induced inflammation and hyperplasia of the skin. In striking contrast to the human syndrome, TTD mice manifest a dear susceptibility to UV- and 7,12-dimethylbenz[a]anthracene-induced skin carcinogenesis, albeit not as pronounced as the totally NER-deficient XPA mice. These findings open up the possibility that TTD is associated with a so far unnoticed cancer predisposition and support the notion that a NER deficiency enhances cancer susceptibility. These findings have important implications for the etiology of the human disorder and for the impact of NER on carcinogenesis.  (+info)

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. (6/179)

We report a missense mutation in the gap junction protein beta-3 (encoding Connexin 31), which was detected in only the affected members of a family in which the autosomal dominant skin disease erythrokeratoderma variabilis was segregating. The nucleotide change results in an arginine to proline substitution in codon 42. This residue is positioned on the first transmembrane/first extracellular domain of the gap junction protein with the mutation replacing a negatively charged residue with a nonpolar residue. This change may disrupt the conformation of the protein and voltage gating polarity leading to impaired channel function.  (+info)

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. (7/179)

Ichthyosis bullosa of Siemens is a unique type of congenital ichthyosis characterized by mild hyperkeratosis over the flexural areas and blister formation after mechanical trauma and superficial denuded areas in the hyperkeratotic skin. Recently, mutations in the helix initiation or termination motifs of keratin 2e (KRT2E) have been described in ichthyosis bullosa of Siemens patients. The majority of the mutations reported to date lie in the 2B region. We report a novel amino acid substitution mutation (asparagine-->aspartic acid) in codon 192 at the conserved 1A helix initiation site of the rod domain of KRT2E in a Japanese family with ichthyosis bullosa of Siemens. Our data indicate aspartic acid substitution in codon 192 in the 1A helix initiation site is deleterious to keratin filament network integrity and leads to ichthyosis bullosa of Siemens phenotype.  (+info)

Type 2 Gaucher disease: the collodion baby phenotype revisited. (8/179)

The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper details the clinical and molecular characterisation of 6 cases of type 2 Gaucher disease presenting with the collodion baby phenotype. The identified mutant glucocerebrosidase alleles include two novel mutations (S196P and R131L) and two rare point mutations (R120W and R257Q), as well as alleles resulting from recombination with the nearby glucocerebrosidase pseudogene. There is significant genotypic heterogeneity in this rare subset of patients with type 2 Gaucher disease. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis in the newborn period.  (+info)

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.

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.

Ichthyosis Vulgaris is a genetic skin disorder, which is characterized by dry, scaly, and rough skin. It is one of the most common forms of ichthyosis and is usually inherited in an autosomal dominant pattern, meaning only one copy of the altered gene in each cell is sufficient to cause the condition.

The term "ichthyosis" comes from the Greek word "ichthys," which means fish, reflecting the scaly appearance of the skin in individuals with this disorder.

In people with Ichthyosis Vulgaris, the skin cells do not shed properly and instead, they accumulate in scales on the surface of the skin. These scales are typically small, white to grayish-brown, and polygonal in shape. The scales are most often found on the legs, arms, and trunk but can affect any part of the body.

The condition usually appears during early childhood and tends to get worse in dry weather. In many cases, it improves during adulthood, although the skin remains rough and scaly.

Ichthyosis Vulgaris is caused by mutations in the gene called filaggrin, which is responsible for maintaining a healthy barrier function in the skin. This leads to dryness and increased susceptibility to skin infections.

X-linked Ichthyosis is a genetic skin disorder that is caused by a deficiency of an enzyme called steroid sulfatase. This enzyme is needed to break down cholesterol sulfate in the skin, and its absence leads to the accumulation of cholesterol sulfate, which disrupts the normal process of skin cell shedding.

The symptoms of X-linked Ichthyosis typically appear at birth or within the first few weeks of life and include:

* Dry, scaly skin that is darker in color than the surrounding skin (hyperkeratosis)
* A buildup of scales on the skin, especially on the back, buttocks, and extremities
* Deep, thick creases on the palms of the hands and soles of the feet
* White scaling on the scalp, eyebrows, and eyelashes
* Increased vulnerability to skin infections
* Small white spots (called milia) on the nose and cheeks
* Affected newborns may also have difficulty closing their eyes due to the thickened skin around the eyelids.

The disorder is inherited through an X-linked recessive pattern, which means that it primarily affects males who inherit the affected gene from their mothers. Females who carry the gene can also be affected but are typically less severely so. There is no cure for X-linked Ichthyosis, but treatment is focused on managing symptoms and preventing complications.

Ichthyosiform erythroderma, congenital, also known as Congenital Ichthyosiform Erythroderma (CIE), is a rare inherited genetic disorder of keratinization. It is characterized by widespread scaliness and erythema (redness) that are present at birth or develop soon thereafter.

The condition is caused by mutations in various genes involved in the development of the skin barrier, leading to abnormalities in the formation and shedding of skin cells. This results in a thickened, scaly appearance of the skin, which can be associated with severe dryness, irritation, and inflammation.

The symptoms of CIE can vary widely among affected individuals, ranging from mild to severe. In addition to the characteristic skin changes, some people with CIE may also experience additional features such as ectropion (outward turning of the eyelids), eclabium (splitting of the lips), and hyperkeratosis of palms and soles.

CIE is typically a lifelong condition, and treatment is focused on managing symptoms and preventing complications. This may include the use of topical moisturizers, emollients, and keratolytic agents to help soften and remove excess skin cells. In some cases, systemic medications such as retinoids may be used to help reduce the severity of skin changes.

Stearyl-sulfatase is a type of enzyme that is responsible for breaking down certain types of fatty substances called lipids in the body. Specifically, it helps to break down a substance called stearyl sulfate, which is a type of sulfated lipid.

Stearyl-sulfatase is found in various tissues throughout the body, including the brain, skin, and kidneys. Mutations in the gene that provides instructions for making this enzyme can lead to a condition called X-linked ichthyosis, which is characterized by dry, scaly skin. This is because the body is unable to properly break down stearyl sulfate and other related lipids, leading to their accumulation in the skin.

In medical terminology, steruly-sulfatase may also be referred to as arylsulfatase C or Arylsulfatase-C.

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.

Arylsulfatases are a group of enzymes that play a role in the breakdown and recycling of complex molecules in the body. Specifically, they catalyze the hydrolysis of sulfate ester bonds in certain types of large sugar molecules called glycosaminoglycans (GAGs).

There are several different types of arylsulfatases, each of which targets a specific type of sulfate ester bond. For example, arylsulfatase A is responsible for breaking down sulfate esters in a GAG called cerebroside sulfate, while arylsulfatase B targets a different GAG called dermatan sulfate.

Deficiencies in certain arylsulfatases can lead to genetic disorders. For example, a deficiency in arylsulfatase A can cause metachromatic leukodystrophy, a progressive neurological disorder that affects the nervous system and causes a range of symptoms including muscle weakness, developmental delays, and cognitive decline. Similarly, a deficiency in arylsulfatase B can lead to Maroteaux-Lamy syndrome, a rare genetic disorder that affects the skeleton, eyes, ears, heart, and other organs.

Keratolytic agents are substances that cause the softening and sloughing off of excess keratin, the protein that makes up the outermost layer of the skin (stratum corneum). These agents help to break down and remove dead skin cells, increase moisture retention, and promote the growth of new skin cells. They are commonly used in the treatment of various dermatological conditions such as psoriasis, eczema, warts, calluses, and ichthyosis. Examples of keratolytic agents include salicylic acid, urea, lactic acid, and retinoic acid.

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.

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!

Photophobia is a condition characterized by an abnormal sensitivity to light. It's not a fear of light, despite the name suggesting otherwise. Instead, it refers to the discomfort or pain felt in the eyes due to exposure to light, often leading to a strong desire to avoid light. This can include both natural and artificial light sources.

The severity of photophobia can vary greatly among individuals. Some people may only experience mild discomfort in bright light conditions, while others may find even moderate levels of light intolerable. It can be a symptom of various underlying health issues, including eye diseases or disorders like uveitis, keratitis, corneal abrasions, or optic neuritis, as well as systemic conditions such as migraines, meningitis, or certain medications that increase light sensitivity.

Transglutaminases are a family of enzymes that catalyze the post-translational modification of proteins by forming isopeptide bonds between the carboxamide group of peptide-bound glutamine residues and the ε-amino group of lysine residues. This process is known as transamidation or cross-linking. Transglutaminases play important roles in various biological processes, including cell signaling, differentiation, apoptosis, and tissue repair. There are several types of transglutaminases, such as tissue transglutaminase (TG2), factor XIII, and blood coagulation factor XIIIA. Abnormal activity or expression of these enzymes has been implicated in various diseases, such as celiac disease, neurodegenerative disorders, and cancer.

Sjogren-Larsson Syndrome is a rare inherited metabolic neurocutaneous disorder characterized by the triad of ichthyosis (scaly, dry skin), mental retardation, and spasticity (stiff and awkward movements due to rigidity of muscles). It is caused by a deficiency of fatty alcohol dehydrogenase enzyme, which leads to an accumulation of fatty alcohols in the body. This disorder is typically noticed in early infancy with the development of yellowish, scaly skin lesions. Neurological symptoms such as spasticity, speech and motor delay become apparent around 18-24 months of age. Other features may include ocular (eye) involvement like decreased vision, photophobia (sensitivity to light), and strabismus (crossed eyes). Seizures can also occur in some cases. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease.

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.

Sulfatases are a group of enzymes that play a crucial role in the metabolism of sulfated steroids, glycosaminoglycans (GAGs), and other sulfated molecules. These enzymes catalyze the hydrolysis of sulfate groups from these substrates, converting them into their respective unsulfated forms.

The human genome encodes for several different sulfatases, each with specificity towards particular types of sulfated substrates. For instance, some sulfatases are responsible for removing sulfate groups from steroid hormones and neurotransmitters, while others target GAGs like heparan sulfate, dermatan sulfate, and keratan sulfate.

Defects in sulfatase enzymes can lead to various genetic disorders, such as multiple sulfatase deficiency (MSD), X-linked ichthyosis, and mucopolysaccharidosis (MPS) type IIIC (Sanfilippo syndrome type C). These conditions are characterized by the accumulation of sulfated molecules in different tissues, resulting in progressive damage to multiple organs and systems.

Hypotrichosis is a medical term that refers to a condition characterized by an abnormal lack or sparseness of hair growth. This can apply to the eyebrows, eyelashes, or scalp hair. It's important to note that this is not a complete loss of hair, but rather a significant reduction in hair density. The onset and severity can vary greatly, and it can be inherited or acquired later in life due to various factors such as diseases, burns, or certain medications.

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.

Ectropion is a medical condition that affects the eyelid, specifically the lower eyelid. It occurs when the lower eyelid is turned outward, away from the eye, causing the inner surface of the lid to be exposed. This can lead to various symptoms such as dryness, redness, irritation, and tearing of the eye. Ectropion can be caused by a variety of factors including aging, facial paralysis, scarring, or previous eyelid surgery. Treatment typically involves surgical correction to tighten the eyelid and restore it to its normal position.

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.

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.

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.

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.

Emollients are medical substances or preparations used to soften and soothe the skin, making it more supple and flexible. They work by forming a barrier on the surface of the skin that helps to prevent water loss and protect the skin from irritants and allergens. Emollients can be in the form of creams, lotions, ointments, or gels, and are often used to treat dry, scaly, or itchy skin conditions such as eczema, psoriasis, and dermatitis. They may contain ingredients such as petroleum jelly, lanolin, mineral oil, or various plant-derived oils and butters. Emollients can also help to reduce inflammation and promote healing of the skin.

Inborn errors of lipid metabolism refer to genetic disorders that affect the body's ability to break down and process lipids (fats) properly. These disorders are caused by defects in genes that code for enzymes or proteins involved in lipid metabolism. As a result, toxic levels of lipids or their intermediates may accumulate in the body, leading to various health issues, which can include neurological problems, liver dysfunction, muscle weakness, and cardiovascular disease.

There are several types of inborn errors of lipid metabolism, including:

1. Disorders of fatty acid oxidation: These disorders affect the body's ability to convert long-chain fatty acids into energy, leading to muscle weakness, hypoglycemia, and cardiomyopathy. Examples include medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
2. Disorders of cholesterol metabolism: These disorders affect the body's ability to process cholesterol, leading to an accumulation of cholesterol or its intermediates in various tissues. Examples include Smith-Lemli-Opitz syndrome and lathosterolosis.
3. Disorders of sphingolipid metabolism: These disorders affect the body's ability to break down sphingolipids, leading to an accumulation of these lipids in various tissues. Examples include Gaucher disease, Niemann-Pick disease, and Fabry disease.
4. Disorders of glycerophospholipid metabolism: These disorders affect the body's ability to break down glycerophospholipids, leading to an accumulation of these lipids in various tissues. Examples include rhizomelic chondrodysplasia punctata and abetalipoproteinemia.

Inborn errors of lipid metabolism are typically diagnosed through genetic testing and biochemical tests that measure the activity of specific enzymes or the levels of specific lipids in the body. Treatment may include dietary modifications, supplements, enzyme replacement therapy, or gene therapy, depending on the specific disorder and its severity.

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.

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.

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.

Etretinate is a oral retinoid medication that is primarily used in the treatment of severe forms of acne, such as recalcitrant cystic acne or nodular acne. It works by decreasing the production of sebum (oil) and promoting the shedding of skin cells, which helps to prevent the formation of comedones (blackheads and whiteheads) and reduce inflammation in the skin.

Etretinate is a derivative of vitamin A and is known for its long-term persistence in the body, with a half-life of approximately 120 days. This means that it can take several months for the drug to be completely eliminated from the body after stopping treatment. As a result, etretinate is usually considered a second-line treatment option for acne and is typically reserved for cases that have not responded to other therapies.

It's important to note that etretinate is a teratogenic medication, which means that it can cause birth defects if taken during pregnancy. Therefore, it should not be used by women who are pregnant or planning to become pregnant, and effective contraception must be used during treatment and for several months after stopping the drug.

Other potential side effects of etretinate include dry skin, dry mouth, nosebleeds, hair loss, muscle aches, and elevated liver enzymes. It may also increase the risk of bone fractures and can interact with other medications, such as tetracyclines, that can increase the risk of intracranial hypertension.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Pelger-Huet Anomaly is a genetic disorder characterized by abnormalities in the shape and segmentation of granulocytes (a type of white blood cell involved in the immune response). In this condition, the granulocytes, specifically neutrophils, have a characteristic "double-nucleated" or "bilobed" appearance instead of the typical multi-lobed or segmented shape.

This anomaly can be classified into two types: complete and partial. In the complete form, all granulocytes are affected, while in the partial form, only a percentage of them show abnormalities. It's important to note that people with Pelger-Huet Anomaly usually have no symptoms and a normal life expectancy. However, in some cases, it can be associated with other genetic disorders or conditions, such as Kabuki syndrome or congenital heart defects.

It is essential to differentiate this benign condition from other disorders that may present similar abnormalities in granulocytes, like myelodysplastic syndromes or leukemia. A thorough clinical evaluation and laboratory tests are necessary for an accurate diagnosis and appropriate management.

1-Acylglycerol-3-Phosphate O-Acyltransferase is an enzyme that catalyzes the reaction of forming diacylglycerol phosphate (also known as phosphatidic acid) from 1-acylglycerol-3-phosphate and acyl-CoA. This enzyme plays a crucial role in the biosynthesis of glycerophospholipids, which are major components of biological membranes. The systematic name for this enzyme is 1-acylglycerol-3-phosphate O-acyltransferase; alternatively, it may also be referred to as lysophosphatidic acid acyltransferase or LPAAT.

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.

Pycnodysostosis is a rare genetic disorder characterized by skeletal dysplasia (abnormal development of the bones) and distinctive facial features. The condition is caused by mutations in the CTSK gene, which provides instructions for making an enzyme called cathepsin K. This enzyme is responsible for breaking down collagen, a protein that provides structure and strength to connective tissues throughout the body.

In people with pycnodysostosis, the lack of functional cathepsin K leads to the accumulation of abnormal bone matrix, which results in bones that are dense but fragile and prone to fractures. The condition is also associated with a number of other skeletal abnormalities, including:

* Short stature
* A prominent forehead (frontal bossing)
* A broad, flat nasal bridge
* A small chin (micrognathia)
* A narrow mouth
* A high-arched palate
* Dental abnormalities, such as delayed tooth eruption and thickened dental enamel
* Hypoplastic or aplastic clavicles (collarbones)
* Short fingers and toes
* Multiple fractures, particularly in the long bones of the arms and legs

Pycnodysostosis is typically diagnosed in childhood based on clinical features and confirmed with genetic testing. There is no cure for the condition, but treatment is focused on managing symptoms and preventing complications. This may include:

* Orthopedic interventions to correct skeletal abnormalities or treat fractures
* Dental care to address dental abnormalities and prevent tooth decay
* Speech therapy to help with any speech difficulties caused by the narrow mouth and high-arched palate
* Genetic counseling for affected individuals and their families.

Arachidonate 12-lipoxygenase (also known as ALOX12 or 12S-lipoxygenase) is an enzyme that catalyzes the conversion of arachidonic acid to 12(S)-hydroperoxyeicosatetraenoic acid (12(S)-HPETE). This reaction is part of the lipoxygenase pathway, which contributes to the biosynthesis of eicosanoids, a group of signaling molecules that play important roles in inflammation and immune response.

The enzyme's function includes introducing molecular oxygen into arachidonic acid at position 12, creating a hydroperoxide group. The product, 12(S)-HPETE, can be further metabolized to various eicosanoids, such as 12-hydroxyeicosatetraenoic acid (12-HETE) and lipoxin A4, which have diverse biological activities in the body.

Arachidonate 12-lipoxygenase is expressed in various tissues, including the vascular endothelium, platelets, and immune cells like monocytes and macrophages. Its activity can contribute to the development of certain diseases, such as atherosclerosis, cancer, and inflammatory disorders. Therefore, inhibiting this enzyme has been considered as a potential therapeutic strategy for treating these conditions.

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.

Exfoliative dermatitis is a severe form of widespread inflammation of the skin (dermatitis), characterized by widespread scaling and redness, leading to the shedding of large sheets of skin. It can be caused by various factors such as drug reactions, underlying medical conditions (like lymphoma or leukemia), or extensive eczema. Treatment typically involves identifying and removing the cause, along with supportive care, such as moisturizers and medications to control inflammation and itching. In severe cases, hospitalization may be necessary for close monitoring and management of fluid and electrolyte balance.

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.

Chondrodysplasia punctata is a group of genetic disorders that affect the development of bones and cartilage. The condition is characterized by stippled calcifications, or spots of calcium deposits, in the cartilage that can be seen on X-rays. These spots are typically found at the ends of long bones, in the sternum, and in the pelvis.

The symptoms of chondrodysplasia punctata can vary widely depending on the specific type of the disorder. Some people with the condition may have short stature, bowed legs, and other skeletal abnormalities, while others may have only mild symptoms or no symptoms at all. The condition can also be associated with developmental delays, intellectual disability, and other health problems.

There are several different types of chondrodysplasia punctata, each caused by a different genetic mutation. Some forms of the disorder are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Other forms of chondrodysplasia punctata are inherited in an X-linked dominant manner, meaning that a single copy of the mutated gene (on the X chromosome) is enough to cause the disorder in females. Males, who have only one X chromosome, will typically be more severely affected by X-linked dominant disorders.

There is no cure for chondrodysplasia punctata, and treatment is focused on managing the symptoms of the condition. This may include physical therapy, bracing or surgery to correct skeletal abnormalities, and medications to manage pain or other health problems.

Dermatologic agents are medications, chemicals, or other substances that are applied to the skin (dermis) for therapeutic or cosmetic purposes. They can be used to treat various skin conditions such as acne, eczema, psoriasis, fungal infections, and wounds. Dermatologic agents include topical corticosteroids, antibiotics, antifungals, retinoids, benzoyl peroxide, salicylic acid, and many others. They can come in various forms such as creams, ointments, gels, lotions, solutions, and patches. It is important to follow the instructions for use carefully to ensure safety and effectiveness.

Netherton Syndrome is a rare inherited genetic disorder of the skin characterized by ichthyosis, hair abnormalities, and immune system dysfunction. The condition is caused by mutations in the SPINK5 gene, which leads to defects in the production of a protein called LEKTI (Lymorphocyte Epithelial Kazal-type Related Inhibitor). This protein plays a crucial role in regulating the activity of proteases, enzymes that break down other proteins, in the skin.

The symptoms of Netherton Syndrome typically include:

1. Ichthyosis: A scaling and thickening of the skin, which can be present at birth or develop in early infancy. The scales are often generalized but may be more prominent on the extremities.
2. Hair abnormalities: Hair shafts may be fragile and break easily, leading to sparse or thin hair (bamboo hair). In some cases, there may be a complete absence of hair (alopecia).
3. Atopic dermatitis-like rash: The skin may be red and itchy, with blisters that rupture and form crusts or scales. This rash can be widespread or localized to specific areas, such as the scalp, face, and flexural surfaces.
4. Increased susceptibility to infections: Due to immune system dysfunction, individuals with Netherton Syndrome may have recurrent bacterial and viral skin infections.
5. Allergic reactions: The condition is associated with an increased risk of developing allergies, including food allergies, eczema, and asthma.
6. Growth retardation: Some individuals with Netherton Syndrome may experience growth delay and failure to thrive.
7. Developmental delays: In some cases, developmental delays or intellectual disability may be present.

The diagnosis of Netherton Syndrome is typically based on clinical features, genetic testing, and histopathological examination of skin biopsies. Treatment is primarily supportive and focuses on managing the symptoms of the condition. This may include topical treatments to moisturize and protect the skin, antibiotics to treat infections, and antihistamines to relieve itching. In some cases, systemic immunosuppressive therapy may be necessary to manage severe inflammation or allergic reactions.

Cystatin M is a type of cysteine protease inhibitor that is primarily expressed in the epididymis, a tube-like structure in the male reproductive system where sperm maturation occurs. It belongs to the cystatin superfamily, which are proteins that regulate protein catabolism by inhibiting the activity of cysteine proteases.

Cystatin M is encoded by the CST6 gene and has been shown to play a role in sperm maturation and fertility. It is secreted into the lumen of the epididymis, where it interacts with sperm and other proteins to regulate their function. Mutations in the CST6 gene have been associated with male infertility, suggesting that cystatin M plays an important role in reproductive health.

In addition to its role in the male reproductive system, cystatin M has also been found in other tissues and may have additional functions beyond regulating cysteine proteases. However, further research is needed to fully understand the physiological roles of this protein.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

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.

Some ichthyoses do not appear to fit exactly into any one type while mutations in different genes can produce ichthyoses with ... Ichthyosis vulgaris accounts for more than 95% of cases. Many types of ichthyoses exist, and an exact diagnosis may be ... Ichthyosis or ichthyosis-like disorders exist for several types of animals, including cattle, chickens, llamas, mice, and dogs ... thefreedictionary.com/ichthyosis citing: Gale Encyclopedia of Medicine. Copyright 2008 "Ichthyosis". Health Information Library ...
... (also known as "autosomal dominant ichthyosis" and "Ichthyosis simplex") is a skin disorder causing dry, ... Ichthyosis vulgaris Archived 2009-02-26 at the Wayback Machine, Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.) ... In some cases, it might be hard to clearly differentiate between ichthyosis vulgaris and other ichthyoses so your doctor can go ... Ichthyosis vulgaris, OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University Ichthyosis vulgaris, eMedicine.com " ...
... is a skin condition clinically and histologically similar to ichthyosis vulgaris.: 565 The development of ... It can occur in people with leprosy, AIDS, tuberculosis, and typhoid fever.[citation needed] Ichthyosis Confluent and ... ichthyosis in adulthood can be a manifestation of systemic disease, and it has been described in association with malignancies ...
... , also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin ... In most cases, the baby develops an ichthyosis or ichthyosis-like condition or other rare skin disorder. Most cases ( ... One form of ichthyosis lamellaris (LI1) is associated with a deficiency of the enzyme keratinocyte transglutaminase. Genes ... The condition can resemble but is different from harlequin type ichthyosis. The appearance can be caused by several skin ...
... is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive ... ISBN 0-07-138076-0. Online Mendelian Inheritance in Man (OMIM): Ichthyosis hystrix, Curth-Macklin type - 146590 "Ichthyosis ... Also known as ichthyosis hystrix gravior or porcupine man. This disease is characterised by spiny scales which cover the entire ... The symptoms of ichthyosis hystrix Curth-Macklin are similar to epidermolytic hyperkeratosis (NPS-2 type) but there is no ...
In the 1960s, recessive x-linked ichthyosis was distinguished clinically from other ichthyoses.: 486 : 561 Ichthyosis Carvajal ... Ichthyosis, X-Linked at eMedicine: Treatment Section DiGiovanna JJ, Robinson-Bostom L (2003). "Ichthyosis: etiology, diagnosis ... and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis. Clinical and Experimental Dermatology ... X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) ...
... (IPS) is a dermatological disease with known genetic causes. This syndrome is a rare ... Renu, George (2014). "Ichthyosis prematurity syndrome: A case report from India". Journal of the American Academy of ... The red skin edema improves after a three-week period but the ichthyosis scaling persists. Asthma has been recorded in some ... "Ichthyosis Prematurity Syndrome". OMIM. Retrieved 3 December 2015. Ikuya, Tsuge; Masashi, Morishita; Takema, Kato; et al. (2015 ...
Harlequin ichthyosis in a female infant Harlequin ichthyosis in a male infant An infant with Harlequin ichthyosis covered in ... Harlequin-type ichthyosis is caused by a loss-of-function mutation in the ABCA12 gene. This gene is important in the regulation ... Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. The skin ... Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. This gene codes for a protein necessary for transporting ...
Ichthyosis en confetti, is a very rare form of congenital ichthyosis in which healthy patches of normal skin co-exist within ... ichthyosis variegata: a case report and review of the literature". Acta Dermato-Venereologica. 83 (1): 36-39. doi:10.1080/ ... "Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10". Science. 330 (6000): 94-97 ...
... is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous ... 563 Ichthyosis prematurity syndrome List of cutaneous conditions Freedberg, et al. (2003). Fitzpatrick's Dermatology in General ...
Senter syndrome Ichthyosis hystrix List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007 ... Keratitis-ichthyosis-deafness syndrome (KID syndrome), also known as ichthyosiform erythroderma, corneal involvement, and ... ISBN 0-7216-2921-0. "Hystrix-like ichthyosis with deafness". Genetics Home Reference. U.S. National Library of Medicine. ...
... is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.: 491 It is also known ... In the same year, it was also proved that ichthyosis exfoliativa is the same disease as ichthyosis bullosa of Siemens. List of ... Ichthyosis bullosa of Siemens has symptoms very similar to epidermolytic hyperkeratosis but is generally milder. Ichthyosis ... A distinctive characteristic of ichthyosis bullosa of Siemens that is not present in other forms of ichthyosis is called the " ...
... (also known as "NISCH syndrome" and "ichthyosis-sclerosing cholangitis ... Ichthyosis prematurity syndrome List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... "OMIM Entry - # 607626 - ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC". omim.org. Retrieved 2022 ... ISBN 978-1-4160-2999-1. "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis - About the Disease - Genetic and ...
... (also known as "HID syndrome") is a cutaneous condition characterized by a ...
"Ichthyosis-intellectual disability-dwarfism-renal impairment". 16 June 2022. "Ichthyosis-intellectual disability-dwarfism-renal ... "OMIM Entry - 242530 - ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT". "Orphanet: Ichthyosis intellectual ... Ichthyosis-intellectual disability-dwarfism-renal impairment is a very rare autosomal recessive ichthyotic genetic disorder ... "Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome". Clinical Genetics. 8 (1): 59-65. doi ...
It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.: 564 It is ... The main symptoms are given by its name: dry, scaly skin (ichthyosis), absence of hair (atrichia) and excessive sensitivity to ... OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis follicularis, atrichia and photophobia Boente ... ISBN 0-7216-2921-0. Mégarbané, Hala; Mégarbané, André (2011-05-21). "Ichthyosis follicularis, alopecia, and photophobia (IFAP) ...
... (KLICK syndrome) is a rare cutaneous condition ... characterized by ichthyosis and keratoderma. It is an autosomal recessive disorder associated with a deletion in the ...
"Harlequin ichthyosis , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ...
Migratory lesions of ichthyosis linearis circumflexa may be caused by a dermal influx of inflammatory cells that undergo ... Traupe H. The Ichthyoses. A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Berlin: Springer Verlag, 1989. Ali M ... Ichthyosis linearis circumflexa comel. A clinico-statistical approach to its relationship with Netherton's syndrome. ... Còme first coined the term ichthyosis linearis circumflexa in 1949, although Rille had previously recorded the distinctive ...
"How Can I Be Black If My Skin Is Red? Navigating Race With Ichthyosis". Ravishly , Media Company. Archived from the original on ... There were no memoirs on ichthyosis - only medical textbooks with people's faces blacked out." The book is expected to be a ... Findlay hopes the book helps those who also have ichthyosis, their parents, young women and teachers. "There was no one in ... Findlay's blog details significant events in her life, her experience of life with ichthyosis, and her commentary as an ...
... several forms of ichthyosis; acanthosis nigricans; and Vagabond's disease. The term was first coined by Poskitt and coworkers ...
Paradisis M, El Hachem M, Diociaiuti A, Giannetti A (2015). "Ichthyoses". In Katsambas A, Lotti T, Dessinioti C, D'Erme AM (eds ... or ichthyosis. It may also be used to soften nails. In adults side effects are generally few. It may occasionally cause skin ... Dry skin and rough skin Dermatitis Psoriasis Ichthyosis Eczema Keratosis Keratoderma Corns Calluses Damaged, ingrown and ...
ISBN 978-1-4832-1545-7. P. Itin; G. Jemec (15 September 2010). Ichthyoses. Karger Medical and Scientific Publishers. pp. 59-. ... Accumulation of cholesterol sulfate in the skin is implicated in the pathophysiology of X-linked ichthyosis, a congenital ...
KRT1 Ichthyosis prematurity syndrome; 608649; SLC27A4 Ichthyosis vulgaris; 146700; FLG Ichthyosis with confetti; 609165; KRT10 ... KRT10 Ichthyosis, harlequin; 242500; ABCA12 Ichthyosis, lamellar 2; 601277; ABCA12 Ichthyosis, lamellar, 3; 604777; CYP4F22 ... Ichthyosis with hypotrichosis; 610765; ST14 Ichthyosis, congenital, autosomal recessive; 612281; ICHYN Ichthyosis, cyclic, with ... ALOXE3 Ichthyosis bullosa of Siemens; 146800; KRT2 Ichthyosis follicularis, atrichia, and photophobia syndrome; 308205; MBTPS2 ...
Ichthyosis: X-linked ichthyosis is a genetic skin disorder caused by the hereditary deficiency of the steroid sulfatase enzyme ... "Ocular manifestations of ichthyosis" (PDF). British Journal of Ophthalmology. "Mucopolysaccharidoses Fact Sheet". Radhika ...
Ichthyosis linearis circumflexa Wang, JF; Orlow, SJ (July 2018). "Keratosis Pilaris and its Subtypes: Associations, New ... KP is commonly described in association with other dry-skin conditions, such as ichthyosis vulgaris, dry skin, and atopic ...
Ichthyosis can be diagnosed individually in a patient and the genetic cause for unlinked ichthyosis is different from the gene ... which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is ... Ichthyosis is a skin related disease in which the skin becomes very scaly, thick, and dry.[citation needed] Neutral lipid ... Treatment for the ichthyosis is limited; moisturizers are commonly used to help manage dry, flaky, itchy skin.[citation needed ...
Such mutations were of the compound heterozygous or homozygous variety, which leads to the expression of lamellar ichthyosis as ... A study on the mutation of keratinocyte transglutaminase (TGK) came to conclude that those affected with ichthyosis lamellaris ... A deficiency is associated with ichthyosis lamellaris. Epidermal transglutaminase is the autoantigen, in humans, of dermatitis ... 1998). "Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for ...
Ichthyosis Congenita AMA Am J Dis Child. 1957;93(3):259-262. doi:10.1001/archpedi.1957.02060040261011 HathiTrust Digital ... He is remembered for his research of ichthyosis congenita, a disease he classified into three types based on severity ( ... ichthyosis congenita gravis, mitis and tarda). In 1900 he published Über Ichtyosis congenita regarding the disorder. Hygiene ...
Eczema Ichthyosis Xeroderma pigmentosum Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume ...
Some ichthyoses do not appear to fit exactly into any one type while mutations in different genes can produce ichthyoses with ... Ichthyosis vulgaris accounts for more than 95% of cases. Many types of ichthyoses exist, and an exact diagnosis may be ... Ichthyosis or ichthyosis-like disorders exist for several types of animals, including cattle, chickens, llamas, mice, and dogs ... thefreedictionary.com/ichthyosis citing: Gale Encyclopedia of Medicine. Copyright 2008 "Ichthyosis". Health Information Library ...
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Explore symptoms, inheritance, genetics of this ... Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with ... Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. J Clin Invest. 2005 Jul;115(7):1708-10. doi: 10.1172/ ... Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening ...
Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry ... Five distinct types of inherited ichthyosis are noted, as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic ... Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) * Harlequin Ichthyosis ... Studies show that a higher prevalence of X-linked ichthyosis as compared to ichthyosis vulgaris may be noted in Mexico, which ...
Learn to recognize ichthyosis vulgaris and how to treat it. ... Ichthyosis vulgaris is a condition affecting skin that causes ... What is harlequin ichthyosis and is it serious?. Harlequin ichthyosis is a rare form of ichthyosis that is present at birth. A ... Ichthyosis vulgaris is a type of ichthyosis, a group of related skin conditions that interfere with the skins ability to shed ... Ichthyosis vulgaris is the most common form of ichthyosis, a group of skin conditions.. Image credit: Skoch3, 2012. ...
X-linked recessive ichthyosis (XLRI) and autosomal recessive congenital ichthyosis-lamellar ichthyosis (ARCI-LI). Of the two, ... In a study known as CONTROL, he and his colleagues evaluated the effect of TMB-001 on two subtypes of congenital ichthyosis: ... Patients with recessive X-linked and autosomal recessive lamellar congenital ichthyosis (CI) achieved treatment success with a ... Cite this: Novel Isotretinoin Ointment for Congenital Ichthyosis Shows Promise - Medscape - Mar 27, 2022. ...
... World J Dermatol 2015; 4(3): 129-134 [DOI: 10.5314/wjd.v4.i3.129] ... physiopathological and molecular data in the X-linked ichthyosis (XLI). We consider that this review is important due to XLI is ...
Template:DiseaseDisorder infobox Ichthyosis acquisita (or "acquired ichthyosis") is a disorder clinically and histologically ... similar to ichthyosis vulgaris. It may develop in patients of any age with certain forms of malignant disease and infectious ... Retrieved from "https://www.wikidoc.org/index.php?title=Ichthyosis_acquisita&oldid=616841" ...
Ichthyosis vulgaris. Authoritative facts about the skin from DermNet New Zealand. ... How is ichthyosis vulgaris diagnosed?. Ichthyosis vulgaris is usually a clinical diagnosis. Mild ichthyosis is often just ... What is ichthyosis vulgaris?. Ichthyosis vulgaris is characterised by excessive dry, scaly skin. It is the most common form of ... What causes ichthyosis vulgaris?. Ichthyosis vulgaris results from loss-of-function mutations in the gene encoding the protein ...
storage disease Neutral lipid storage disease with ichthyosis Triglyceride storage disease with ichthyosis Triglyceride storage ... Neutral lipid storage disease without ichthyosis NLSDM Genetic Testing Registry: Neutral lipid storage myopathy ... lack of the ...
... severe skin condition called Ichthyosis. I am creating a meet for others affected by this condition - Melbourne, May 2015. When ... What is Ichthyosis?. Ichthyosis is a rare genetic or acquired skin condition affecting an estimated 10-20 individuals per ... People with ichthyosis have a normal lifespan. However those with very severe ichthyosis may need to spend several hours each ... When I was a child, I hadnt met anyone else with the rare, severe genetic skin condition Ichthyosis. I thought I was all alone ...
Ichthyosis. Ichthyosis is a genetic condition with thick, leathery skin. "Ichthy" comes from the Greek word for fish and this ... Ichthyosis vulgaris, characterized by mild skin scaling and dryness. *Epidermolytic ichthyosis, previously called epidermolytic ... Localized ichthyosis, characterized by thick, scaly skin localized to regions of the body such as the palms and soles of the ... Lamellar ichthyosis, characterized by large, platelike scales and thick skin. *Congenital ichthyosiform erythroderma, ...
Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. ... Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. ... Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. [1] Harlequin ichthyosis is ... Other Medscape articles on ichthyosis include Hereditary and AcquiredIchthyosis Vulgaris, Lamellar Ichthyosis, X-Linked ...
Skin Genetic Diseases: Keratosis, Epidermolysis Bullosa, Lamellar Ichthyosis. Your skin is affected by numerous external ... Lamellar Ichthyosis: Characterized by the thick scales that result from skin layers building on top of each other. Normally, ... However, in the case of Lamellar Ichthyosis, the two layers dont separate or shed and it results in a build-up of hard, scaly ... Skin Genetic Diseases: Keratosis, Epidermolysis Bullosa, Lamellar Ichthyosis. ...
3 : Seborrhoea, Ichthyosis, Psoriasis, Lichen Layoutgetreues Digitalisat der Ausg.: Wien : Kaiserl.-Königl. Hof- und ...
Ichthyosis in Great Danes. Ichthyosis is an inherited skin disease that is manifested by scaling, cornification and peeling of ... A novel SLC27A4 splice acceptor site mutation in Great Danes with ichthyosis. PLoS One 10:e0141514, 2015. Pubmed reference: ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
Foundation for Ichthyosis & Related Skin Types, Inc. - PO Box 1067, Lansdale, PA 19446 - [email protected] ... FIRST member and mom Jordan has generously shared a video she created called Ichthyosis & Pregnancy. Jordan discusses her ... Copyright © 2010-2023 Foundation for Ichthyosis & Related Skin Types, Inc.® - Site Map - Privacy/Permissions Policy. Website ...
PhD dives into the topic of congenital ichthyosis describing his talk on the skin condition at the American Academy of ... In this video interview, Christopher Bunick, MD, PhD dives into the topic of congenital ichthyosis describing his talk on the ... Late Breaking Research: Congenital Ichthyosis. March 26, 2022. Mary Scoviak, Managing Editor ... regardless of the subtype of congenital ichthyosis (CI), according to a presentation at the American Academy of Dermatologys ...
Foundation for Ichthyosis & Related Skin Types, Inc. - PO Box 1067, Lansdale, PA 19446 - [email protected] ... Copyright © 2010-2023 Foundation for Ichthyosis & Related Skin Types, Inc.® - Site Map - Privacy/Permissions Policy. Website ... Ichthyosis Resource for School Nurses and Educators. Select:. Select a Section. Contact FIRST. Ichthyosis Awareness Month. Sign ... https://pedsderm.net/site/assets/files/18580/spd_school_handout_4_ichthyosis.pdf ...
... is a dry skin condition. There are two general types: *Inherited ichthyosis (several forms exist)-dryness and ... This Ichthyosis page on EmpowHER Womens Health works best with javascript enabled in your browser.. Toggle navigation Womens ... The diagnosis of ichthyosis is usually based on signs and symptoms of the disorder. Rarely, blood tests or a skin biopsy. may ... Ichthyosis can develop on any part of the body, but most often occurs on the legs, arms, or trunk. The symptoms can vary from ...
What are the symptoms for ichthyosis fetalis?. Breathing and eating difficulties symptom was found in the ichthyosis fetalis ... Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and ... Harlequin ichthyosis runs in families. The disorder is due to a problem in the gene ABCA12. ABCA12 is responsible for ... Harlequin ichthyosis is a life-threatening condition that needs emergency care under the hands of a team of doctors from ...
Template:DiseaseDisorder infobox Ichthyosis acquisita (or "acquired ichthyosis") is a disorder clinically and histologically ... Ichthyosis acquisita. Revision as of 19:32, 12 December 2011 by Vanbot. (talk , contribs) (Robot: Changing Category:Diseases to ... similar to ichthyosis vulgaris. It may develop in patients of any age with certain forms of malignant disease and infectious ... Retrieved from "https://www.wikidoc.org/index.php?title=Ichthyosis_acquisita&oldid=616841" ...
Ichthyosis-AB (American Bulldog Type). Description:. Ichthyosis or Autosomal Recessive Congenital Ichthyosis (ARCI) is a term ... It is clear that additional causes for ichthyosis exist, so an individual can still develop ichthyosis as a result of an ... Animal Genetics offers DNA testing for Ichthyosis. The genetic test verifies the presence of the Ichthyosis-AB mutation and ... In American bulldogs, symptoms of Ichthyosis can be severe. Sympoms are seen in puppies as old as 1-2 weeks. Often, a layer of ...
Lamellar ichthyosis (LI) is an autosomal recessive disorder that is apparent at birth and is present throughout life. The ... Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. Eur J Dermatol. 2005 Nov-Dec. 15( ... The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L ... encoded search term (Lamellar Ichthyosis) and Lamellar Ichthyosis What to Read Next on Medscape ...
American Bulldog|American BullyNIPAL4Integumentary system
ICHTHYOSIS VULGARIS. Ichthyosis is a genetic skin disorder characterized by persistently dry , thickened , rough , fish scale. ... AYURVEDIC TREATMENT OF ICHTHYOSIS. *The main goal of treatment is to moisturize and exfoliate the skin. This helps to prevent ... Ichthyosis affects people of all ages, races and gender. The disease usually presents at birth or within the first year and it ... People suffering from ichthyosis needs to bathe , moisturize and exfoliate their skin daily on a regular bases. ...
A 6-year-old boy presented with generalized xerotic scaly skin with cracked appearance involved most of the body parts since early infancy. His twin sister had similar condition ...
Ichthyosis, sometimes called fish scale disease, is a disorder that causes rough, dry and scaly skin. Learn the symptoms of ... 6. Eye Management in Ichthyosis. Ichthyosis Support Group - People Who Care about Ichthyosis, www.ichthyosis.org.uk/faqs/eye- ... Ichthyosis scales may be white, brown or red.1Ichthyosis. American Osteopathic College of Dermatology, www.aocd.org/page/ ... Symptoms of ichthyosis are very similar for all types, although some slight variations may occur.1Ichthyosis. American ...
Ichthyosis answers are found in the 5-Minute Pediatric Consult powered by Unbound Medicine. Available for iPhone, iPad, Android ... "Ichthyosis." 5-Minute Pediatric Consult, 8th ed., Wolters Kluwer, 2019. Pediatrics Central, peds.unboundmedicine.com/ ... pedscentral/view/5-Minute-Pediatric-Consult/617980/all/Ichthyosis. Ichthyosis. In: Cabana MDM, ed. 5-Minute Pediatric Consult. ... Ichthyosis [Internet]. In: Cabana MDM, editors. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. [cited 2023 November 29]. ...
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  • The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. (wikipedia.org)
  • Harlequin-type ichthyosis is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin. (speakingtree.in)
  • Lamellar ichthyosis is a rare genetic condition that affects the skin. (nih.gov)
  • Infants affected by Lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. (nih.gov)
  • Lamellar ichthyosis is generally inherited in an autosomal recessive manner. (nih.gov)
  • When Do Symptoms of Lamellar ichthyosis Begin? (nih.gov)
  • Lamellar ichthyosis is a condition that mainly affects the skin. (medlineplus.gov)
  • People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. (medlineplus.gov)
  • Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. (medlineplus.gov)
  • Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. (medlineplus.gov)
  • Mutations in one of many genes can cause lamellar ichthyosis. (medlineplus.gov)
  • The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections. (medlineplus.gov)
  • Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. (medlineplus.gov)
  • Mutations in other genes associated with lamellar ichthyosis are each responsible for only a small percentage of cases. (medlineplus.gov)
  • In some people with lamellar ichthyosis, the cause of the disorder is unknown. (medlineplus.gov)
  • Researchers have identified multiple chromosome regions that contain genes that may be associated with lamellar ichthyosis, although the specific genes have not been identified. (medlineplus.gov)
  • Pietrusinski M, Stanczyk-Przyluska A, Chlebna-Sokól D, Borkowska E, Kaluzewski B, Borowiec M. Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis. (medscape.com)
  • Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases. (nih.gov)
  • Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report. (nih.gov)
  • Other Medscape articles on ichthyosis include Hereditary and Acquired Ichthyosis Vulgaris , Lamellar Ichthyosis , X-Linked Ichthyosis , and Ichthyosis (ophthalmology focus). (medscape.com)
  • [ 5 ] Missense mutations in ABCA12 result in milder autosomal recessive congenital ichthyosis phenotypes such as lamellar ichthyosis and congenital ichthyosiform erythroderma. (medscape.com)
  • Some occur in isolation and are not part of a syndrome (eg, ichthyosis vulgaris, X-linked ichthyosis, lamellar ichthyosis, congenital ichthyosiform erythroderma [epidermolytic hyperkeratosis], harlequin ichthyosis). (msdmanuals.com)
  • The ABCA12 gene is located in a region of chromosome 2q34 that harbors the genes for lamellar ichthyosis, polymorphic congenital cataract, and insulin-dependent diabetes mellitus (IDDM13), and therefore is a positional candidate for these pathologies. (nih.gov)
  • Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). (nih.gov)
  • The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). (nih.gov)
  • Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al. (nih.gov)
  • The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). (wikipedia.org)
  • There are more than 20 different types of ichthyosis, but ichthyosis vulgaris is considered the most common form. (medicalnewstoday.com)
  • There are several different types of ichthyosis, each with its own set of symptoms and causes. (clinicmantra.com)
  • There are several different types of ichthyosis, and each type has its own specific cause. (clinicmantra.com)
  • There are at least 20 different types of ichthyosis. (kivetonpharmacy.com)
  • There are many types of ichthyosis. (medicinenet.com)
  • Ichthyosis (also named fish scale disease) is a family of genetic skin disorders characterized by dry, thickened, scaly skin. (wikipedia.org)
  • Yet, for the most common form, ichthyosis vulgaris, the underlying genetic variation was unclear for quite a long time. (medscape.com)
  • X-linked ichthyosis is a genetic skin disorder that affects males. (rarediseases.org)
  • Ichthyosis is a rare genetic disorder that results in a scaly appearance of the skin. (rainbowkids.com)
  • Ichthyoses-- rare, genetic, incurable dermatologic diseases characterized by dry, thickened, scaling skin-- affect more than 1 million Americans and can cause devastating disfigurement with numerous physical, social, and emotional consequences. (druglib.com)
  • The underlying genetic abnormality in harlequin ichthyosis is a mutation in the lipid-transporter gene ABCA12 on chromosome 2. (medscape.com)
  • The purpose of this overview is to increase the awareness of clinicians regarding autosomal recessive congenital ichthyosis (ARCI), related genetic counseling issues, and management. (nih.gov)
  • Many forms of ichthyosis are caused by inherited genetic mutations that affect the production or function of keratin in the skin. (clinicmantra.com)
  • In some cases, a healthcare provider may order laboratory tests, such as a skin biopsy or a genetic test, to help confirm the diagnosis and determine the specific type of ichthyosis. (clinicmantra.com)
  • It's not always possible to prevent ichthyosis, as the condition can be caused by inherited genetic mutations or other factors that are beyond an individual's control. (clinicmantra.com)
  • Ichthyosis vulgaris is commonly caused by a genetic mutation that's inherited from one or both parents. (skincarehealthcenter.com)
  • If genetic abnormalities aren't responsible for ichthyosis, it's referred to as acquired ichthyosis. (skincarehealthcenter.com)
  • Ichthyosis Vulgaris is caused by an inherited genetic flaw, a mutation that affects a large protein called filaggrin. (skincarehealthcenter.com)
  • Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. (encyclopedia.pub)
  • Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. (renucell.com)
  • Ichthyosis is a genetic disease affecting the skin of Golden Retrievers. (hepper.com)
  • Ichthyosis is caused by a genetic mutation. (hepper.com)
  • Dry skin may be mimicked by a genetic condition called ichthyosis. (medicinenet.com)
  • Patients who survive manifest a debilitating, persistent ichthyosis similar to severe congenital ichthyosiform erythroderma. (medscape.com)
  • Mutations in the KRT10 gene can cause another skin disorder known as ichthyosis with confetti (also called congenital reticular ichthyosiform erythroderma), which is characterized by red, scaly skin all over the body with small patches of normal skin that look like confetti. (nih.gov)
  • Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. (orpha.net)
  • I don't know that I can say I was happy to be born with this rare skin disease called Autosomal Recessive Congenital Ichthyosis Erythroderma (ARCI-CIE) , actual formal diagnosis at age 20, but I know I can say that having this disease has made me strong, has made me do things that I might never have otherwise, has made me reach and go beyond goals I might never have otherwise. (firstskinfoundation.org)
  • The erythroderma can change to ichthyosis linearis circumflexa periodically. (medscape.com)
  • While rare, in some people with ichthyosis vulgaris, scaling interferes with the sweat glands causing either excessive sweating ( hyperhidrosis ) or an inability to sweat. (medicalnewstoday.com)
  • The National Registry for Ichthyosis and Related Disorders voluntarily identifies people with ichthyosis and other related disorders to collect information about their skin disorder and how it has affected them. (nih.gov)
  • Most people with ichthyosis have inherited a particular faulty gene from their parent. (kivetonpharmacy.com)
  • The cell becomes normal and, as it continues to grow and divide, forms patches of normal skin in people with ichthyosis with confetti. (nih.gov)
  • Ichthyosis comes from the Greek ἰχθύς ichthys, literally 'fish', since dry, scaly skin is the defining feature of all forms of ichthyosis. (wikipedia.org)
  • Ichthyosis vulgaris causes extremely dehydrated skin resulting in thick and scaly skin. (medicalnewstoday.com)
  • Ichthyoses" or "disorders of cornification" are general terms describing a group of scaly skin disorders. (rarediseases.org)
  • Ichthyosis is a group of skin disorders characterized by dry, thickened, or scaly skin. (clinicmantra.com)
  • People with severe ichthyosis may be prescribed retinoid tablets (synthetic vitamin A), which reduce the growth of overactive scaly skin. (kivetonpharmacy.com)
  • The condition gets its name from the Greek word, " ichthy ", which mean "fish", as dogs with ichthyosis have scaly skin resembling fish scales. (hepper.com)
  • Ichthyosis vulgaris is the most common type, and it is a severe scaly skin condition, often on the front of the lower legs. (medicinenet.com)
  • Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. (nih.gov)
  • Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (medlineplus.gov)
  • Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction. (medscape.com)
  • In harlequin ichthyosis, the ABCA12 -mediated transfer of lipid to lamellar granules is defective. (medscape.com)
  • In vitro studies have demonstrated normalization of lipid transport when the wild-type ABCA12 gene is transferred to keratinocytes of patients with harlequin ichthyosis. (medscape.com)
  • Mutations in the ABCA12 gene cause harlequin ichthyosis. (encyclopedia.pub)
  • A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis. (encyclopedia.pub)
  • Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, Niizeki H, Miyagawa S, Shimizu H. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis withmoderate clinical severity. (encyclopedia.pub)
  • [ 2 ] For some of the rare, congenital ichthyoses, mutations in different genes have been identified, and the gene loci as well as the modes of inheritance are very heterogeneous (summarized in reference 2). (medscape.com)
  • Autosomal recessive congenital ichthyoses (ARCI) are lifelong skin disorders with generalized scaling and variable erythema that typically manifest at birth or early infancy. (nih.gov)
  • Retinoids are a class of chemicals that are structurally and functionally related to vitamin A. Retinoids offer several benefits, including decreasing thickening and scaling of the skin, and are used to treat a form of ichthyosis that occurs in people known as Autosomal Recessive Congenital Ichthyoses (ARCI). (hepper.com)
  • Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. (medscape.com)
  • Association of atopic dermatitis with primary hereditary ichthyoses. (medscape.com)
  • Most cases of ichthyosis vulgaris are hereditary and begin in childhood. (medicalnewstoday.com)
  • The doctors explained to Brenna's parents that she "suffered from a hereditary disease called Harlequin ichthyosis, in which the body produces skin 10 times too fast for normal growth. (godupdates.com)
  • Ichthyosis vulgaris is a type of ichthyosis, a group of related skin conditions that interfere with the skin's ability to shed dead skin cells, causing extremely dry, thick skin. (medicalnewstoday.com)
  • It's important to note that the specific cause of ichthyosis may vary depending on the type of ichthyosis and the individual person. (clinicmantra.com)
  • Depending on the specific type of ichthyosis and the individual person, other complications may also occur. (clinicmantra.com)
  • This type of ichthyosis tends to run in families. (medicinenet.com)
  • Foundation for Ichthyosis & Related Skin Types (FIRST). (wikipedia.org)
  • NORD gratefully acknowledges the members of the Medical and Scientific Advisory Board of the Foundation for Ichthyosis & Related Skin Types for assistance in the preparation of this report. (rarediseases.org)
  • Please feel free to contact the Foundation for Ichthyosis & Related Skin Types, Inc.®(FIRST) at 800.545.3286, or make a donation to help find a cure for ichthyosis. (renucell.com)
  • The Foundation for Ichthyosis & Related Skin Types , Inc.® (FIRST) is the global leading advocacy group dedicated to families affected by the rare skin disorder ichthyosis. (renucell.com)
  • This information was originally published on The Foundation for Ichthyosis & Related Skin Types, Inc.® (FIRST) website, section Living with Ichthyosis . (renucell.com)
  • Ichthyosis caused by mutations in the same gene can vary considerably in severity and symptoms. (wikipedia.org)
  • Some ichthyoses do not appear to fit exactly into any one type while mutations in different genes can produce ichthyoses with similar symptoms. (wikipedia.org)
  • Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms, one of which is limb reduction defect known as CHILD syndrome, a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. (wikipedia.org)
  • Symptoms of the following disorders may be similar to those of X-linked ichthyosis. (rarediseases.org)
  • Researchers are studying ichthyosis to better understand the cause of the disease and to find better treatments, in hopes to better diagnose the disease, control its symptoms, and someday potentially cure the disorder. (nih.gov)
  • It describes symptoms and causes, as well as information about diagnosis, treatment, and other strategies for living with ichthyosis. (nih.gov)
  • Two patients with this newly characterized form of ichthyosis were treated with isotretinoin (Accutane), a common prescription acne medication, and found that their symptoms resolved almost entirely. (nih.gov)
  • Treatment for ichthyosis may include the use of moisturizers, topical creams or ointments, and other skin care products to help manage symptoms and improve the appearance and texture of the skin. (clinicmantra.com)
  • What are the symptoms for ichthyosis vulgaris? (skincarehealthcenter.com)
  • Some types are inherited at birth and other types are acquired during adulthood.There's no cure for ichthyosis, but a daily skincare routine usually keeps the symptoms mild and manageable. (kivetonpharmacy.com)
  • The signs and symptoms of inherited ichthyosis appear at birth or within the first year of life.The faulty gene affects the rate at which the skin regenerates - either the shedding of old skin cells is too slow, or the skin cells reproduce at a much faster rate than they can shed old skin. (kivetonpharmacy.com)
  • Recently, evidence emerged that variation within EDC genes plays an important role in the pathogenesis of three common skin disorders, ichthyosis vulgaris, atopic dermatitis (AD) and psoriasis. (medscape.com)
  • Studying and identifying the genes linked to ichthyosis and their effect on the skin. (nih.gov)
  • Those who inherit two defective genes have a more severe form of ichthyosis vulgaris. (skincarehealthcenter.com)
  • Some cases have been described of recessive X - linked ichthyosis syndromic caused by deletion of the STS gene that affects neighboring genes. (ivami.com)
  • Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. (nih.gov)
  • Women who are carriers of X-linked ichthyosis and give birth to sons with the disorder may experience a delay in labor or failure of labor to initiate. (rarediseases.org)
  • X-linked ichthyosis is a rare disorder affecting one in 6,000 males. (rarediseases.org)
  • Ichthyosis vulgaris (ik-thee-O-sis vul-GAY-ris) is an inherited skin disorder in which dead skin cells accumulate in thick, dry scales on your skin's surface. (skincarehealthcenter.com)
  • At present time there is no cure for ichthyosis , however dedicated researchers and physicians have and continue to develop effective ways to help manage the disorder . (renucell.com)
  • I never saved enough, and always feared it would be detrimental to my skin - which is affected by rare, severe and painful disorder called Ichthyosis . (carlyfindlay.com.au)
  • Cyclic ichthyosis with epidermolytic hyperkeratosis is another skin disorder caused by mutations in the KRT10 gene. (nih.gov)
  • Of note, X-linked ichthyosis is associated with Kallmann syndrome (close to the KAL1 gene). (wikipedia.org)
  • Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (medlineplus.gov)
  • Most cases of ichthyosis vulgaris are caused by a mutation in the gene responsible for encoding filaggrin. (medicalnewstoday.com)
  • Two loss-of-function mutations in the filaggrin (FLG) gene, R501X and 2282del4, were identified as causative for ichthyosis vulgaris in 15 affected European families, and the mode of inheritance was found to be semidominant. (medscape.com)
  • Additionally, two unique loss-of-function mutations in the FLG gene were identified in Japanese ichthyosis vulgaris families and found to be associated with AD in a Japanese cohort. (medscape.com)
  • Another example of a condition with skin and extracutaneous organ involvement is keratitis ichthyosis deafness (KID) syndrome, which is characterized by vascularizing keratitis, ichthyosis, and sensorineural hearing loss and caused by mutations in the connexin-26 gene. (msdmanuals.com)
  • A person who carries a recessive gene for a trait (like blue eyes) or a disease (like ichthyosis) on their chromosome. (firstskinfoundation.org)
  • Each year, more than 16,000 babies around the world are born with ichthyoses [1], and researchers have identified so far more than 50 gene mutations responsible for various types and subtypes of the disease. (nih.gov)
  • Ichthyosis Vulgaris (sequence analysis of FLG gene). (mendelian.co)
  • Ichthyosis Vulgaris (p.Arg501* and p.Ser761Cysfs*36 frequent mutations on FLG gene). (mendelian.co)
  • in IVAMI perform detection of mutations associated with recessive X - linked ichthyosis, by complete PCR amplification of the exons of the STS gene, and subsequent sequencing. (ivami.com)
  • The scaling associated with ichthyosis vulgaris can also cause the skin to crack in areas that are severely or persistently affected. (medicalnewstoday.com)
  • Sometimes other skin diseases, such as the allergic skin condition eczema, are associated with ichthyosis vulgaris. (skincarehealthcenter.com)
  • For example, non-syndromic ichthyoses that are inherited recessively come under the umbrella term autosomal recessive congenital ichthyosis (ARCI). (wikipedia.org)
  • In the rarest form of ARCI, harlequin ichthyosis , babies are born prematurely covered in thick, hard, armor-like plates of cornified skin separated by deep fissures. (nih.gov)
  • Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. (nih.gov)
  • Aberrant Connexin26 Hemichannels Underlying Keratitis-Ichthyosis-Deafness Syndrome are Potently Inhibited by Mefloquine. (medscape.com)
  • Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. (medscape.com)
  • Differential diagnosis includes other forms of keratinopathic ichthyosis such as epidermolytic ichthyosis, as well as epidermolytic palmoplantar keratoderma, erythrokeratodermia variabilis, and KID syndrome (see these terms). (orpha.net)
  • Other ichthyoses are part of a syndrome that involves multiple organs. (msdmanuals.com)
  • Babies with ichthyosis-prematurity syndrome (IPS) are born prematurely between 29 and 35 weeks' gestation. (nih.gov)
  • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. (qxmd.com)
  • Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. (qxmd.com)
  • Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome. (nih.gov)
  • Harlequin Ichthyosis" Encyclopedia , https://encyclopedia.pub/entry/4066 (accessed December 09, 2023). (encyclopedia.pub)
  • Inverting Sutures With Systemic Retinoids and Lubrication Can Correct Ectropion in Ichthyosis. (medscape.com)
  • Some medications, including retinoids and other drugs used to treat acne, may cause ichthyosis as a side effect. (clinicmantra.com)
  • Taking certain medications, such as retinoids, may increase the risk of developing ichthyosis. (clinicmantra.com)
  • A healthcare provider can help determine the specific cause of ichthyosis in an individual case. (clinicmantra.com)
  • What is the Cause of Ichthyosis in Golden Retrievers? (hepper.com)
  • There's no cure for ichthyosis, but moisturising and exfoliating the skin daily can help prevent dryness, scaling and the build-up of skin cells. (kivetonpharmacy.com)
  • Congenital ectropion in ichthyosis congenita mitis and gravis]. (nih.gov)
  • Ichthyosis can cause emotional distress, particularly if it affects appearance or causes discomfort or pain. (clinicmantra.com)
  • Ichthyosis affects people of all ages, races and gender. (renucell.com)
  • The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. (encyclopedia.pub)
  • Ichthyosis vulgaris is often called fish scale disease because the scales that characterize the condition look like fish scales. (medicalnewstoday.com)
  • Ichthyosis vulgaris may present as skin dryness with accompanying fine, white, or skin-colored scales. (medicalnewstoday.com)
  • The scales of ichthyosis vulgaris, sometimes called fish scale disease or fish skin disease, can be present at birth, but usually first appear during early childhood. (skincarehealthcenter.com)
  • Recessive X - linked ichthyosis (RXLI), may occur during the first few days of life with the presence of non - erythematous and generalized polygonal loosely attached scales. (ivami.com)
  • Ichthyosis vulgaris causes dry, fishlike scales. (medicinenet.com)
  • citation needed] There is no way to prevent ichthyosis. (wikipedia.org)
  • The most common or well-known types are: Ichthyosis acquisita A physician often can diagnose ichthyosis by looking at the skin. (wikipedia.org)
  • Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings. (medscape.com)
  • Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. (encyclopedia.pub)
  • Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. (nih.gov)
  • Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (medlineplus.gov)
  • A chronic, congenital ichthyosis inherited as an autosomal recessive trait. (sdsu.edu)
  • The recessive X - linked ichthyosis (RXLI) is a genodermatosis included within cornification disorders (MÉDOC) and is characterized by generalized hyperkeratosis and skin peeling. (ivami.com)
  • Ichthyosis shows an autosomal recessive pattern of inheritance . (hepper.com)
  • Many types of ichthyoses exist, and an exact diagnosis may be difficult. (wikipedia.org)
  • S1 guidelines for the diagnosis and treatment of ichthyoses - update" (PDF). (wikipedia.org)
  • Akiyama M, Suzumori K, Shimizu H. Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age. (medscape.com)
  • Other blood relations with ichthyosis might lend support to the diagnosis. (skincarehealthcenter.com)
  • Ichthyosis of varying severity is well documented in some popular breeds of domestic dogs. (wikipedia.org)
  • Akiyama M. The pathogenesis of severe congenital ichthyosis of the neonate. (encyclopedia.pub)
  • Acquired ichthyosis associated with chronic graft-versus-host disease following allogeneic peripheral blood stem cell transplantation in a patient with chronic myelogenous leukemia. (medscape.com)
  • As ichthyosis vulgaris and AD often occur concomitantly in affected individuals, these two mutations were subsequently investigated in AD patients and found to be strongly associated with the disease. (medscape.com)
  • In the present review, we describe the most important aspects of the X-linked ichthyosis (XLI) and make a compilation of the some historic details of the disease. (wjgnet.com)
  • Ichthyosis is scaling and flaking of skin ranging from mild but annoying dryness to severe disfiguring disease. (msdmanuals.com)
  • Ichthyosis can also be a sign of systemic disease. (msdmanuals.com)
  • Ranging from a basic overview to an in-depth look at how ichthyosis is passed genetically , information for caregivers and teachers , our library includes booklets, resource sheets , disease sheets and our quarterly newsletter, Ichthyosis Focus . (renucell.com)
  • Seeing their baby girl's skin at birth, Courtney and Evan learned their daughter has a rare skin disease, Harlequin ichthyosis. (godupdates.com)
  • Cite this: On the Role of the Epidermal Differentiation Complex in Ichthyosis Vulgaris, Atopic Dermatitis and Psoriasis - Medscape - Sep 01, 2007. (medscape.com)
  • Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico. (medscape.com)
  • Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. (encyclopedia.pub)
  • There can be ocular manifestations of ichthyosis, such as corneal and ocular surface diseases. (wikipedia.org)
  • Defective epidermal differentiation and cornification are observed in various skin disorders, predominantly the ichthyoses, a group of skin diseases characterized by a generalized scaling of the skin. (medscape.com)
  • Looking at the normal development of the skin for clues as to how tissue development goes wrong to cause diseases like ichthyosis. (nih.gov)
  • Ichthyosis encompasses a group of skin diseases which are characterized by cornification (excessive accumulation of large amounts of flakes or dead cells) in the top layer of skin. (ivami.com)
  • Ichthyosis can also be much more severe than xeroderma. (msdmanuals.com)
  • Culican SM, Custer PL. Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin. (medscape.com)
  • Harlequin ichthyosis is a rare form of ichthyosis that is present at birth . (medicalnewstoday.com)
  • Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term). (orpha.net)
  • That's not the case for people who suffer from a group of rare, scale-forming skin disorders known as ichthyoses, which are named after "ichthys," the Greek word for fish. (nih.gov)