epidermolysis bullosa simplex 2F with mottled pigmentation

info · Genetic

An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in the keratin-5 gene (KRT5) on chromosome 12q13.13.

Signs and symptoms

Hypoplastic fifth toenail
Intra-epidermal blistering
Abnormal blistering of the skin
Nail dysplasia
Onychogryphosis
Discrete 2 to 5-mm hyper- and hypopigmented macules
Punctate palmoplantar hyperkeratosis
Nail dystrophy
Mottled pigmentation of the trunk and proximal extremities

Also known as: EBSMP; Epidermolysis bullosa simplex-MP; epidermolysis bullosa simplex with mottled pigmentation; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering