Ly Hoang, Black Martin M, Robson Alistair
St John's Institute of Dermatology, St Thomas' Hospital, London, UK.
Australas J Dermatol. 2004 Nov;45(4):220-2. doi: 10.1111/j.1440-0960.2004.00101.x.
A 36-year-old woman presented with lesions on her scalp, face and trunk. Histopathological examination of these lesions demonstrated facial trichoepithelioma, and scalp cylindroma. A solitary nodule on the trunk had features of cylindroma, spiradenoma and trichoepithelioma, a previously unreported occurrence. Based on the clinical picture, the diagnosis of Brooke-Spiegler syndrome was established. Genetic studies confirmed the diagnosis, demonstrating a splice site mutation, designated 1518+2T>C, on the CYLD1 gene of chromosome 16q12-q13.
一名36岁女性出现头皮、面部和躯干皮损。这些皮损的组织病理学检查显示面部毛发上皮瘤和头皮圆柱瘤。躯干上的一个孤立结节具有圆柱瘤、螺旋腺瘤和毛发上皮瘤的特征，这是一种此前未报告过的情况。根据临床表现，诊断为布鲁克-施皮格勒综合征。基因研究证实了诊断，显示16号染色体q12-q13区域的CYLD1基因存在一个剪接位点突变，命名为1518+2T>C。
