A Case of Kindler Syndrome

被引:0
|
作者
Celik, Reyhan [1 ]
Koc, Kadriye [1 ]
Balaban, Deniz [1 ]
Karaoglu, Aynur [1 ]
机构
[1] Haseki Egitim & Arastirma Hastanesi, Dermatol Klin, Istanbul, Turkey
关键词
Kindler syndrome; MUTATION;
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Kindler syndrome is a rare genetic disorder, acral blistering and photosensitivity appears from birth, followed by progressive poikiloderma and cutaneous atrophy. Kindler syndrome is caused by mutations in KIND-1 gene encoding the protein kindlin-1 which is involved in the attachment of the actin cytoskeleton to the extracellular matrix basal keratinocytes. Here we report a 18-year-old woman presented with generalized poikiloderma, webbing of the toes and fingers, palmoplantar hyperkeratosis, nail dystrophy periodontitis and ectropione with a history of blister formation in early infant. (Turkderm 2009; 43: 68-9)
引用
收藏
页码:68 / 69
页数:2
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