Conditions / Genetic
Bothnian type palmoplantar keratoderma
info ยท Genetic
A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the
A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.
Signs and symptoms
- Diffuse palmoplantar hyperkeratosis
Also known as: PPKB; diffuse palmoplantar keratoderma, Bothnian type