title: Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
abstract: Dystrophic epidermolysis bullosa (DEB) is a rare hereditary skin disorder caused by mutations in COL7A1, encoding collagen type VII.1 Clinical manifestations of COL7A1 mutations range from generalized skin blistering to mild localized blistering or nail dystrophy.2 The investigation of the molecular basis of DEB has revealed more than 540 different mutations that cannot entirely explain phenotypic variations (HGMD Professional 2010.3, https://portal.biobase-international. com/hgmd/). Inversa recessive DEB (RDEB-I) is a subtype characterized by generalized blistering in the neonatal period. The condition improves with age, and in adults blistering is restricted to intertriginous areas, and severe lesions of the oral and genital mucosa and nail changes occur in the majority of described patients.2 Recent data suggested that amino-acid substitutions affecting arginines or glycines at borders of collagenic subdomains might cause this phenotype.3 We report a German patient with an unusually mild RDEB-I harbouring compound heterozygous mutations in COL7A1.
authors.affiliation: Department of Dermatology and Venereology, Otto-von-Guericke-University, Magdeburg, Germany. martin.leverkus@medma.uni-heidelberg.de
authors.forename: M
authors.initials: M
authors.lastname: Leverkus
authors.forename: A
authors.initials: A
authors.lastname: Ambach
authors.forename: M
authors.initials: M
authors.lastname: Hoefeld-Fegeler
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
authors.forename: E
authors.initials: E
authors.lastname: Schmidt
authors.forename: H
authors.initials: H
authors.lastname: Schumann
authors.forename: C
authors.initials: C
authors.lastname: Has
authors.forename: H
authors.initials: H
authors.lastname: Gollnick
mesh_terms: D000328:Adult; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D024143:Collagen Type VII; D005998:Glycine