epidermolytic hyperkeratosis 2A

info · Genetic

An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21.

Signs and symptoms

Erythroderma
Congenital nonbullous ichthyosiform erythroderma
Generalized hyperkeratosis
Palmoplantar keratoderma
Cobblestone-like hyperkeratosis
Abnormal blistering of the skin
Palmoplantar hyperkeratosis
Hyperkeratosis

Also known as: autosomal dominant epidermolytic hyperkeratosis 2A