Sporadic Kindler syndrome with a novel mutation

Anais Brasileiros De Dermatologia
Hiram Larangeira de AlmeidaJ A McGrath

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.

References

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Citations

Jan 28, 2016·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Nathalia Mocellin BarbosaMaria Cristina Munerato
Nov 1, 2016·Human Molecular Genetics·Kristin MaierCristina Has
Sep 17, 2015·Anais Brasileiros De Dermatologia·Hiram Larangeira de AlmeidaJohn McGrath
Jul 1, 2018·American Journal of Clinical Dermatology·Amanda F NahhasHenry W Lim
Nov 18, 2020·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Susanne KrämerVictoria Clark

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Methods Mentioned

BETA
light microscopy
biopsy
biopsies

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