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.
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