TY - JOUR
T1 - Sporadic kindler syndrome with a novel mutation
AU - de Almeida, Hiram Larangeira
AU - Lai-Cheong, Joey
AU - Heckler, Gláucia Thomas
AU - Mcgrath, John
AU - Fong, Kenneth
PY - 2013/11
Y1 - 2013/11
N2 - We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bul-losa. 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.
AB - We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bul-losa. 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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U2 - 10.1590/abd1806-4841.20132173
DO - 10.1590/abd1806-4841.20132173
M3 - Article
C2 - 24346923
AN - SCOPUS:84890695126
SN - 0365-0596
VL - 88
SP - 212
EP - 215
JO - Anais Brasileiros de Dermatologia
JF - Anais Brasileiros de Dermatologia
IS - 6 SUPPL.1
ER -