title: Epidermolysis bullosa pruriginosa: further clarification of the phenotype.
abstract: A defect in type VII collagen causes dystrophic epidermolysis bullosa (DEB). The pruriginosa variant (DEB-Pr) is unique because its initial presentation may be delayed until adolescence or adulthood, and its predominant feature is scarring and pruritus without the characteristic skin fragility of DEB. We describe three families with multiple affected members in which DEB-Pr shows an autosomal-dominant inheritance pattern. All affected individuals were examined, and three previously unreported COL7A1 mutations were identified.
authors.affiliation: Department of Dermatology, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Brick
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Hand
authors.forename: Amy S
authors.initials: AS
authors.lastname: Frankel
authors.forename: Dawn H
authors.initials: DH
authors.lastname: Siegel
authors.forename: Kelly B
authors.initials: KB
authors.lastname: Thomas
authors.forename: Rokea
authors.initials: R
authors.lastname: El-Azhary
authors.forename: Alfons
authors.initials: A
authors.lastname: Krol
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D024143:Collagen Type VII / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology*; D016108:Epidermolysis Bullosa Dystrophica; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics / Q000473:pathology; D008297:Male; D009260:Nail Diseases / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology*
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII