Epidermolytic hyperkeratosis 1

Preferred Label : Epidermolytic hyperkeratosis 1;

Symbol : EHK1;

CISMeF acronym : BCIE; BIE; EHK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bullous erythroderma ichthyosiformis congenita of brocq; Bullous congenital ichthyosiform erythroderma; Bullous ichthyosiform erythroderma; Epidermolytic ichthyosis; BCIE; BIE; EI;

Description : 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.;

Inheritance : Autosomal recessive (in some families); Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 1 gene (KRT1, 139350.0001); Caused by mutation in the keratin 10 gene (KRT10, 148080.0001);

Prefixed ID : #113800;

Details

Origin ID

113800;

UMLS CUI

C5781874;

Automatic exact mappings (from CISMeF team)
- KRT1 wt Allele [NCIt concept]
- KRT10 wt Allele [NCIt concept]
- bullous congenital ichthyosiform erythroderma [DO Concept]
- epidermolytic hyperkeratosis, Late-Onset [MeSH concept]
- epidermolytic hyperkeratosis, Late-Onset [MeSH Supplementary Concept]
- keratin 10 [HGNC gene]
- keratin 10 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
- Congenital bullous ichthyosiform erythroderma [ICD-10 Sub-category]
- Congenital bullous ichthyosiform erythroderma [HPO term]
- Epidermolytic Ichthyosis [NCIt concept]
- Epidermolytic hyperkeratosis [PASCAL descriptor]
- Epidermolytic hyperkeratosis [MedDRA LLT]
- Epidermolytic ichthyosis [ICD-11 More detail]
- Epidermolytic ichthyosis [MedDRA LLT]
- Epidermolytic palmoplantar keratoderma of Vorner (disorder) [SNOMED CT concept]
- epidermolytic hyperkeratosis [Disease (Nov.)]
- epidermolytic hyperkeratosis [DO Concept]
- hyperkeratosis, epidermolytic [MeSH Descriptor]
- hyperkeratosis, epidermolytic [MeSH concept]
DO Cross reference
- epidermolytic hyperkeratosis [DO Concept]
False automatic mappings
- Bullous ichthyosiform erythroderma [MedDRA LLT]
- Bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Congenital bullous ichthyosiform erythroderma [ICD-10 Sub-category (who)]
- Dominant congenital ichthyosiform erythroderma (disorder) [Inactive SNOMED CT concept]
Genes related to phenotype
- Keratin 1, type II [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital bullous ichthyosiform erythroderma [HPO term]
- Epidermal acanthosis [HPO term]
- Erythroderma [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Scaling skin [HPO term]
ORDO concept(s)
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
- Bullous ichthyosiform erythroderma [MedDRA LLT]
- Bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Congenital bullous ichthyosiform erythroderma [ICD-10 Sub-category]
- Congenital bullous ichthyosiform erythroderma [HPO term]
- Epidermolytic Ichthyosis [NCIt concept]
- Epidermolytic hyperkeratosis [MedDRA LLT]
- Epidermolytic ichthyosis [MedDRA LLT]
- epidermolytic hyperkeratosis [DO Concept]
- epidermolytic hyperkeratosis [Disease (Nov.)]
- hyperkeratosis, epidermolytic [MeSH Descriptor]
- hyperkeratosis, epidermolytic [MeSH concept]
Validated automatic mappings to BTNT
- diffuse epidermolytic palmoplantar keratoderma [Disease (Nov.)]

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