title: A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
abstract: Dystrophic epidermolysis bullosa (DEB) represents a group of inherited skin disorders characterized by sublamina densa blister formation. We resent the case of a 16-year old girl with DEB, who had a 10-year-history of recurrent pruritic skin lesions. Despite misleading biopsy results, the correct diagnosis was suspected by examination of other family members. Finally, mutational analysis revealed a novel glycine substitution mutation in the COL7A1 gene in three affected family members.
authors.affiliation: Department of Dermatology, Division of General Dermatology, Medical University of Vienna, Vienna, Austria.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Riedl
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.forename: Dagmar
authors.initials: D
authors.lastname: Foedinger
authors.forename: Harald
authors.initials: H
authors.lastname: Kittler
mesh_terms: D000293:Adolescent; D001706:Biopsy; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D005998:Glycine / Q000235:genetics; D006801:Humans; D010641:Phenotype; D012867:Skin / Q000473:pathology
chemical_list: D024143:Collagen Type VII; D005998:Glycine