【摘要】 目的了解国人多发性家族性毛发上皮瘤(MFT)的临床表现和遗传特点。方法对收集的3个MFT家系和1989年以来国内报道的16个MFT家系进行系统的临床和遗传学的总结分析。结果⑴典型表现为沿鼻唇沟对称分布多个坚实透明的结节;⑵MFT呈常染色体显性遗传;⑶女性好发,男女性外显率之比约为0.7∶1;⑷患者发病年龄从出生到58岁不等,平均发病年龄为16.5岁;⑸可与其它遗传性皮肤病如雀斑、进行性对称性红斑角化症等并发;⑹已从国内MFT家系中发现6种新的CYLD基因突变,CYLD基因突变越靠近羧基端,患者的发病年龄越大,皮损数量越多、越大,分布越广泛。结论MFT为常染色体显性遗传病,在国人中并非罕见,女性好发,男女患病率之比为0.7∶1,患者平均发病年龄为16.5岁,典型皮损为沿鼻唇沟对称分布、皮肤颜色、粟粒至蚕豆大、坚实透明的多个结节,可与雀斑、进行性对称性红斑角化症等遗传性皮肤病并发,目前已经发现6种CYLD基因新的突变可导致MFT,CYLD基因突变越靠近羧基端,患者的发病年龄越大,皮损数量越多、越大、分布越广泛。更多还原

【Abstract】 Objective To study clinical and genetic features of multiple familial Trichoepithelioma(MFT) in Chinese.Methods The clinical and genetic features of MFT were analyzed from three MFT pedigrees collected by authors′ clinic and studied by reviewing 16 MFT families reported in China since 1989.Results ⑴ The patients showed multiple dome-shaped,skin-colored,firm papules along the nasolabial folds.Some patients also presented the lesions on the scalp.⑵ The pattern of inheritance was autosomal dominant.⑶ It was more common in female and the male/female sex penetrance was 0.7:1.⑷ The age of onset was from birth to 28 years old by the mean of 16.5 years old.⑸ MFT could also co-occurred with other genetic dermatosis,such as progressive symmetric erythrokeratodermia(PSEK) and freckles.⑹ There were 6 new mutations of CYLD detected in the Chinese MFT families.Phenotype-genotype analysis showed that more close to the carboxyl end the site of mutations was,more severe and extensive lesions and older onset-age were.Conclusions MFT generally shows an autosomal dominant pattern of inheritance with high penetrance and it is not a rare disease in Chinese.MFT is more preferred in female and the male/female ratio is 0.7:1.The mean age of onset is about 16.5 years old.The typicalMFT is characterized by the presence of many skin-colored,firm papules locatedpredominantly in the nasolabial folds.MFT may also co-occurred with other genetic dermatosis,such as progressive symmetric erythrokeratodermia and freckles.Up to date,there are 6 new mutations of CYLD detected in the Chinese MFT families.Phenotype-genotype analysis shows that more close to the carboxyl end the site of mutations was,more severe and extensive lesions and older onset-age were.更多还原