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目的分析散发性多发性毛发上皮瘤的临床特点,检测散发性多发性毛发上皮瘤的致病基因,并回顾性分析国内外毛发上皮瘤的文献。方法采集患者的外周血,应用外周血细胞DNA提取、PCR扩增和DNA直接测序等方法分别检测CYLD基因突变情况。结果病理检查示:真皮中上层多个基底样瘤细胞团,瘤团区域见数个角囊肿,瘤基质中未见明显的收缩间隙,符合毛发上皮瘤的诊断。本实验中未检测到CYLD基因的突变位点。结论毛发上皮瘤患者,尤其是散发病例的CYLD基因突变率低,毛发上皮瘤的致病基因可能存在其他的基因突变位点,其次可能存在遗传异质性。
Objective To analyze the clinical features of sporadic multiple hair epithelial tumors and to detect the pathogenicity genes of sporadic multiple hair epitheliomas and to review the literature of hair epithelial tumors at home and abroad. Methods The peripheral blood of patients was collected. The mutation of CYLD gene was detected by DNA extraction from peripheral blood cells, PCR amplification and DNA direct sequencing. Results Pathological examination revealed multiple basaloid tumor cell clusters in the upper middle dermis, several cysts were found in the tumor area, and no obvious contraction gap was found in the tumor matrix, which was in line with the diagnosis of hair epithelial tumors. No CYLD gene mutations were detected in this experiment. Conclusion The mutation rate of CYLD gene in patients with hair epithelial tumors, especially in sporadic cases, is low. There may be other gene mutation sites in the gene of hair epithelial tumors, followed by the possibility of genetic heterogeneity.