CYLD基因在Brooke-Spiegler综合征、家族性圆柱瘤和多发性家族性毛发上皮瘤中的基因突变:缺乏基因型-显型关联性

来源 :世界核心医学期刊文摘(皮肤病学分册) | 被引量 : 0次 | 上传用户:nescafe_k
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Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct entities, share overlapping clinical findings. Patients with BSS are predisposed to multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. FC, however, is characterized by cylindromas and MFT by trichoepitheliomas as the only tumor type. These disorders have recently been associated with mutations in the CYLD gene. In this report, we describe three families with BSS, one with FC, and two with MFT phenotypes associated with novel and recurrent mutations in CYLD. We provide evidence that these disorders represent phenotypic variation of a single entity and lack genotype-phenotype correlation. Patients with BSS are predisposed to multiple skin appendage tumors such as cylindroma, trichoepithelioma, and Spiradenoma. FC, however, is characterized by cylindromas and MFT by trichoepitheliomas as the only tumor type. These disorders have been recently associated with mutations in the CYLD gene. In this report, we describe three families with BSS, one with FC, and two With MFT phenotypes associated with novel and recurrent mutations in CYLD. We provide evidence that these disorders represent phenotypic variation of a single entity and lack genotype-phenotype correlation.
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