title: Sporadic Kindler syndrome with a novel mutation.
abstract: We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.
authors.affiliation: Federal University of Pelotas, PelotasRS, Brazil.
authors.forename: Hiram Larangeira de
authors.initials: HL
authors.lastname: Almeida
authors.affiliation: Catholic University of Porto Alegre, Porto AlegreRS, Brazil.
authors.forename: Gláucia Thomas
authors.initials: GT
authors.lastname: Heckler
authors.affiliation: St John's Institute of Dermatology Research Laboratories, London, England.
authors.forename: Kenneth
authors.initials: K
authors.lastname: Fong
authors.affiliation: St John's Institute of Dermatology Research Laboratories, London, England.
authors.forename: Joey
authors.initials: J
authors.lastname: Lai-Cheong
authors.affiliation: St John's Institute of Dermatology Research Laboratories, London, England.
authors.forename: John
authors.initials: J
authors.lastname: McGrath
mesh_terms: D000328:Adult; D001768:Blister / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D010510:Periodontal Diseases / Q000235:genetics* / Q000473:pathology; D010787:Photosensitivity Disorders / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins