Multiple familial trichoepithelioma with a novel mutation of the CYLD gene.
Multiple familial trichoepithelioma with a novel mutation of the CYLD gene.
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具有 CYLD 基因新突变的多发性家族性毛发上皮瘤。
DOI：
10.1111/1346-8138.13901
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发表时间：
2017
期刊：
影响因子：
3.1
通讯作者：
Seishima M.
中科院分区：
文献类型：
--
作者：
Fujii A;Matsuyama K;Mizutani Y;Kanoh H;Nakano H;Seishima M.
尊敬的编辑：多发性家族性乳腺上皮瘤（MFT）、家族性圆柱瘤病（FC）和布鲁克-斯皮格勒综合征（BSS）最初被描述为不同的疾病。然而，它们与圆柱瘤病（CYLD）基因突变有重叠的临床特征。1超过100种生殖系CYLD突变，包括日本病例，2，3已在这些疾病中报道。我们报告一个MFT患者与一个新的突变CYLD。
Dear Editor, Multiple familial trichoepithelioma (MFT), familial cylindromatosis (FC) and Brooke–Spiegler syndrome (BSS) were described originally as distinct diseases. However, they share overlapping clinical characteristics with mutations in the cylindromatosis (CYLD) gene. 1 More than 100 germ line CYLD mutations, including in Japanese cases, 2, 3 have been reported in these diseases. We report an MFT patient with a novel mutation of CYLD.