title: Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations.
abstract: We report a 9-year-old girl who experienced recurrent dysphagia since infancy. Crohn's disease was suspected because she had aphthous ulcers of the mouth and anal dermatitis with hematochezia. After bougienages of esophageal stenoses and medication for inflammatory bowel disease proved unsuccessful, interdisciplinary re-examination revealed the cause of the symptoms to be an extracutaneous form of dystrophic epidermolysis bullosa, a genetic skin fragility disorder. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with trauma-induced skin blistering, scarring, nail dystrophy, and, in some cases, mucosal involvement. The present proband never developed skin blisters but had nail dystrophy and erosions of the oral, esophageal, and genitoanal mucosa, which healed with slight scarring. Mutation analysis disclosed compound heterozygosity for recessive mutations in the COL7A1 gene. The paternal mutation 425 A-->G caused abnormal splicing resulting in a premature stop codon. The maternal mutation G2775S led to the substitution of a glycine by a serine in the triple helical domain of collagen VII. This case shows that mucosal disease and esophageal strictures in childhood are not always acquired, but can also represent a genetic defect of dermal-epidermal adhesion, even in the absence of skin blistering.
authors.affiliation: Department of Pediatrics, University of Münster, Münster, Germany.
authors.forename: Klaus-Peter
authors.initials: KP
authors.lastname: Zimmer
authors.forename: Hauke
authors.initials: H
authors.lastname: Schumann
authors.forename: Sabine
authors.initials: S
authors.lastname: Mecklenbeck
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
mesh_terms: D001706:Biopsy; D001768:Blister / Q000473:pathology; D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D004940:Esophageal Stenosis / Q000000981:diagnostic imaging / Q000209:etiology*; D005260:Female; D006801:Humans; D009061:Mouth Mucosa / Q000473:pathology; D009262:Nails / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D012867:Skin / Q000473:pathology
chemical_list: D024143:Collagen Type VII