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