Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?
We report on a family with autosomal dominant dystrophic epidermolysis bullosa and congenital localized absence of skin, resembling the features of Bart's Syndrome. This type of epidermolysis bullosa and the Cockayne-Touraine and Pasini types may represent different expressions of the same gene defect.
D000483:Alleles; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D010375:Pedigree