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EHK
MCID: EPD002
MIFTS: 55
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Epidermolytic Hyperkeratosis (EHK)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Epidermolytic Hyperkeratosis:
Characteristics:Orphanet epidemiological data:59
epidermolytic ichthyosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Neonatal; OMIM:57
Inheritance:
autosomal dominant autosomal recessive (in some families)
Miscellaneous:
homozygous mutations in krt10 (e.g., ) have been reported in some ehk families HPO:32
epidermolytic hyperkeratosis:
Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications:
ICD10:
33
34
External Ids:
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OMIM
:
57
Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by Muller et al., 2006).
Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see 146600) when localized. They are presumably distinct entities.
A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), is caused by mutation in the keratin gene KRT9 (607606), and a mild form of EPPK can also be caused by mutation in KRT1. (113800)
MalaCards based summary : Epidermolytic Hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is related to ichthyosis, cyclic, with epidermolytic hyperkeratosis and palmoplantar keratoderma, epidermolytic, and has symptoms including scaly skin An important gene associated with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways/superpathways are Developmental Biology and Circadian entrainment. The drugs Etomidate and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are erythroderma and weight loss UniProtKB/Swiss-Prot : 75 Epidermolytic hyperkeratosis: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. NIH Rare Diseases : 53 Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. EI is caused by changes (mutations) in the KRT1 or KRT10 genes. About half of cases are due to new mutations and are not inherited from a parent (sporadic). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes. CDC : 3 EIS is a long-standing, globally-recognized fellowship program, renowned for its investigative and emergency response efforts. Learn about the disease detectives and alumni who make up this program’s distinguished network. Genetics Home Reference : 25 Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis). Wikipedia : 76 Epidermolytic ichthyosis (EI), (also known as \"epidermolytic hyperkeratosis (EHK)\", \"bullous... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:113800Human phenotypes related to Epidermolytic Hyperkeratosis:59 32 (show all 14)
UMLS symptoms related to Epidermolytic Hyperkeratosis:scaly skin |
Drugs for Epidermolytic Hyperkeratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 18)
Interventional clinical trials:
Inferred drug relations via UMLS 73 / NDF-RT 51 :Cochrane evidence based reviews: hyperkeratosis, epidermolytic |
MalaCards organs/tissues related to Epidermolytic Hyperkeratosis:41
Skin
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Articles related to Epidermolytic Hyperkeratosis:(show top 50) (show all 149)
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Genes related to Epidermolytic Hyperkeratosis (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Epidermolytic Hyperkeratosis:75 (show all 31)
ClinVar genetic disease variations for Epidermolytic Hyperkeratosis:6
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Search
GEO
for disease gene expression data for Epidermolytic Hyperkeratosis.
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Pathways related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:
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Cellular components related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:
Biological processes related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:
Molecular functions related to Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:
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