A novel keratin 13 variant in a four-generation family with white sponge nevus.
A novel keratin 13 variant in a four-generation family with white sponge nevus.
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DOI：
10.1002/ccr3.1073
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发表时间：
2017-09
影响因子：
0.7
通讯作者：
Hes FJ
中科院分区：
文献类型：
--
作者：
de Haseth SB;Bakker E;Vermeer MH;El Idrissi H;Bosse T;Smit VTHBM;Terron-Kwiatkowski A;McLean WHI;Peters AAW;Hes FJ
我们报告了一种新的 KRT13 种系变异，可导致白色海绵痣 (WSN) 伴粘膜发育不良。在 4 名女性患者中观察到生殖器、阴道和宫颈 WSN，其中两人在年轻时就有宫颈癌前病变。 12 名口腔 WSN 患者中有 2 名发展为口腔鳞状细胞癌。
We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma.