The molecular genetics of dystrophic epidermolysis bullosa

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EPIDERMOLYSIS BULLOSA (EB) is a heterogeneous group of inherited skin diseases characterized by blistering of the skin and mucous membranes after minor trauma.^1-3The genes responsible for the three groups of EB (EB simplex, junctional EB, and dystrophic EB [DEB]) have recently been identified, and some molecular defects within these genes have been characterized.^4,5Specifically, EB simplex has been shown to arise from mutations in the keratin 5 and 14 genes^6-10; the genes encoding nicein/kalinin/epiligrin are the candidate genes in junctional EB¹¹; and both dominant and recessive forms of DEB (DDEB and RDEB, respectively) have been closely linked to the type VII collagen gene (COL7A1)^12-16that encodes the major component of anchoring fibrils (AFs).^17,18Biochemistry and molecular biology of basement membrane zone components involved in human diseases have been reviewed by Marinkovich¹⁹in this issue of theArchives. This editorial focuses on the