title: Epidermolysis bullosa simplex and mottled pigmentation: a new dominant syndrome. I. Clinical and histological features.
abstract: A family is reported in which 11 members presented epidermolysis bullosa simplex with some unusual features, and 10 of whom had congenital mottled hyper- and hypopigmentation of the skin. Both anomalies are inherited together in an autosomal dominant fashion, although dominant X-linkage cannot be excluded. The epidermolysis without dyspigmentation in the 11th individual suggests that the syndrome in the other 10 members is due to genetic linkage of two independent genes and not to pleiotropism of a single mutant gene. The mottled pigmentation seems distinct from previously known dyspigmentations and is also suggestive of autosomal inactivation in man. (See addendum).
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D013577:Syndrome