epidermolysis bullosa simplex with mottled pigmentation (DOID:0111346)
Alliance: disease page
Synonyms: EBSMP; Epidermolysis bullosa simplex-MP; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Alt IDs: OMIM:131960, MESH:C535959, ORDO:79397, UMLS_CUI:C0432316
Definition: An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.