A Japanese case of de novo dominant dystrophic epidermolysis bullosa


: S. Matsuba, Departments of and Dermatology, Juntendo University School of Medicine, Bunkyo-ku Hongo 2-1-1 Tokyo 113–8421 Japan. Tel.: +81 3 5802. Fax: +81 3 3813 9443. E-mail: matsuba@med. juntendo.ac.jp


Summary We report a Japanese case of dominant dystrophic epidermolysis bullosa with a de novo mutation in the triple-helical domain of the type VII collagen. Mutation detection revealed a glycine → aspartic acid substitution at amino acid position 2012 in exon 73 (G2012D). This previously unreported mutation underlies a clinical phenotype of moderately severe, localized skin blistering.