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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.

SUBMITTER: Almeida HL

PROVIDER: S-EPMC3875998 | biostudies-literature | 2013 Nov-Dec

REPOSITORIES: biostudies-literature

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Sporadic Kindler syndrome with a novel mutation.

Almeida Hiram Larangeira de HL Heckler Gláucia Thomas GT Fong Kenneth K Lai-Cheong Joey J McGrath John J

Anais brasileiros de dermatologia 20131101 6 Suppl 1

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 nonse ...[more]

PMID: 24346923

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