The Molecular Genetics of Dystrophic Epidermolysis Bullosa

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 genes⁶⁻¹⁰; 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