Sporadic Kindler Syndrome with a novel mutation
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...
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| Main Authors: | , , , , |
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| Format: | Book |
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Sociedade Brasileira de Dermatologia,
2013-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 0365-0596 10.1590/abd1806-4841.20132173 |