title: Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.
abstract: Epidermolysis bullosa dystrophica inversa (DEB-I) is a very rare disease characterized by autosomal recessive inheritance that causes blistering and erosions on the trunk and extremities occurring in early infancy with a predilection for flexural and mucosal areas thereafter. Ultrastructural findings show dermolytic blistering and absent or rudimentary anchoring fibrils as in generalized forms of dystrophic epidermolysis bullosa. Immunoreactivity for type VII collagen, however, is preserved. We present two patients with DEB-I with compound heterozygosity for the two different COL7A1 mutations, one of them (Arg2069Cys in exon 74) carried by the heterozygous mother, the other one (Lys142Arg in exon 3) carried by the heterozygous father, accompanied by absence of the associated anchoring fibrils protein GDA-J/F3.
authors.affiliation: Department of Dermatology, University of Graz, Graz, Austria.
authors.forename: Peter
authors.initials: P
authors.lastname: Kahofer
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: Dieter
authors.initials: D
authors.lastname: Metze
authors.forename: Henny
authors.initials: H
authors.lastname: Lemmink
authors.forename: Hans
authors.initials: H
authors.lastname: Scheffer
authors.forename: Josef
authors.initials: J
authors.lastname: Smolle
mesh_terms: D000293:Adolescent; D001707:Biopsy, Needle; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology*; D019084:Fluorescent Antibody Technique, Indirect; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D016253:Microscopy, Immunoelectron; D009154:Mutation; D009426:Netherlands; D010375:Pedigree; D011379:Prognosis; D018570:Risk Assessment
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D024143:Collagen Type VII