Preferred Label : Epidermolytic ichthyosis;
ICD-11 definition : Epidermolytic ichthosis is a genetic skin disorder due to mutations in the keratin
10 gene (KRT10). Inheritance is usually autosomal dominant but up to 50% of cases
are sporadic. It may manifest at birth with erythroderma and severe blistering but
with age blistering tends to be less severe and erythema less prominent. Progressive
hyperkeratosis develops, accentuated at joint flexures. Life expectancy is usually
normal although the disease can be severely incapacitating.;
ICD-11 synonym : Epidermolytic hyperkeratosis; Bullous congenital ichthyosiform erythroderma of Brocq; Congenital bullous ichthyosiform erythroderma;
Origin ID : 1183730789;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Epidermolytic ichthosis is a genetic skin disorder due to mutations in the keratin
10 gene (KRT10). Inheritance is usually autosomal dominant but up to 50% of cases
are sporadic. It may manifest at birth with erythroderma and severe blistering but
with age blistering tends to be less severe and erythema less prominent. Progressive
hyperkeratosis develops, accentuated at joint flexures. Life expectancy is usually
normal although the disease can be severely incapacitating.
