Epidermolysis bullosa simplex with mottled pigmentation.
A family in which epidermolysis bullosa simplex and mottled pigmentation are inherited as an autosomal dominant disorder is described. Clinical features include: non-scarring blistering, mainly affecting the limbs, mottled pigmentation, predominantly affecting the trunk and neck, warty hyperkeratotic papules of the palms and soles, small red scaly plaques, and skin atrophy. Histology showed an atrophic epidermis, basal cell lysis and significant colloid body formation in an infant from the family.
Coleman
R
R
Department of Dermatology, Hospital for Sick Children, London, U.K.
Harper
J I
JI
Lake
B D
BD
D000328:Adult; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology / Q000648:ultrastructure