Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Other congenital malformations (Q80-Q89)»Congenital bullous ichthyosiform erythroderma (Q80.3)
Q80.3
Congenital bullous ichthyosiform erythroderma
Related indications (MeSH) (1)
Hyperkeratosis, Epidermolytic2 drugs (2 approved)
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.