目的了解中国人多发性家族性毛发上皮瘤(MFT)的临床表型和遗传学特点。方法对我科收集的1例MFT家系和1998年以来CBM上报道的18个MFT家系的临床表型和遗传学特点进行分析。结果多发性家族性毛发上皮瘤家系中的传递符合常染色体显性遗传模式;女性多发,男女比为1∶1.73;患者多在20岁前发病,临床表型为初发于鼻翼部的肤色光滑丘疹;同一家系不同患者的表现度可不同;患者多不伴发其他疾病。结论 MFT是一种少见的高外显率的常染色体显性遗传性皮肤病,临床表型以鼻周对称分布的肤色、坚实的、呈半球状隆起的多个丘疹及结节为特征;MFT临床表现相似,但不同患者临床表现可存在明显差异。 Objective To understand the clinical phenotype and genetic features of multiple human familial hair epithelial neoplasia (MFT) in China. Methods The clinical phenotypic and genetic characteristics of one MFT pedigree collected in our department and 18 MFT pedigrees reported on CBM since 1998 were analyzed. Results The transmission of multiple familial hair epithelial tumor families was consistent with the autosomal dominant inheritance pattern. In women, the ratio of male to female was 1: 1.73. Most of the patients developed the disease before the age of 20. The clinical phenotype was smooth and smooth Papules; the same family of different patients with different degrees of performance; patients are not associated with other diseases. Conclusions MFT is a rare high penetrance autosomal dominant skin disease. Its clinical phenotype is characterized by symmetrical nasal distribution of skin color, solid papules and nodules hemispherical; MFT Clinical manifestations are similar, but different patient clinical manifestations may exist significant differences.