epidermolytic hyperkeratosis 1

An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the ker

An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.

Signs and symptoms

• Abnormal blistering of the skin
• Scaling skin
• Congenital bullous ichthyosiform erythroderma
• Epidermal acanthosis
• Erythroderma
• Palmoplantar hyperkeratosis