Zhang Guolong, Huang Yijin, Yan Kailin, Li Wei, Fan Xing, Liang Yanhua, Sun Liangdan, Li Hui, Zhang Shumei, Gao Min, Du Wenhui, Yang Sen, Liu Jianjun, Zhang Xuejun
Institute of Dermatology & Department of Dermatology at First Hospital, Anhui Medical University, Hefei, China.
Exp Dermatol. 2006 Dec;15(12):966-70. doi: 10.1111/j.1600-0625.2006.00501.x.
Brooke-Spiegler syndrome (BSS) is an autosomal dominant disease characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. The disease gene was mapped to 16q12-13, and mutations in the CYLD gene were identified in families with BSS. In the present report, we describe a large consanguineous Chinese family with BSS showing an intra-family phenotypic variability. Clinically, some affected individuals only revealed discrete small skin-coloured tumors whereas the proband showed an expansion of multiple large tumors on the back of nose and numerous dome-shaped papules on her scalp. Histologically, both trichoepitheliomas and cylindromas were found in the affected individuals. By sequence analysis, we identified a recurrent mutation 2272C>T (R758X) of the CYLD gene in the affected individuals of this family, which was previously identified in other ethnic families with familial cylindromatosis. Our result provided additional information for phenotype-genotype correlation in BSS.
布鲁克-施皮格勒综合征（BSS）是一种常染色体显性疾病，其特征为圆柱瘤、毛发上皮瘤，偶尔还伴有汗腺螺旋腺瘤。该疾病基因被定位于16q12 - 13，并且在患有BSS的家族中发现了CYLD基因的突变。在本报告中，我们描述了一个患有BSS的中国近亲大家族，该家族表现出家族内表型变异性。临床上，一些受影响个体仅表现为散在的小的肤色肿瘤，而先证者则表现为鼻背部多个大肿瘤的扩展以及头皮上众多圆顶状丘疹。组织学上，在受影响个体中发现了毛发上皮瘤和圆柱瘤。通过序列分析，我们在该家族的受影响个体中鉴定出CYLD基因的一个复发性突变2272C>T（R758X），该突变先前在其他患有家族性圆柱瘤病的种族家族中也有发现。我们的结果为BSS的表型-基因型相关性提供了更多信息。
