摘要
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 study clinical and genetic features of multiple familial trichoepithelioma（MFT） in Chinese. Methods The clinical and genetic features of MFT were analyzed from authors＇ report here, and from reviewing 18 MFF families reported of CBM in China since 1998. Results The inheritance pattern of MFT was autosomal dominant;It was more preferred in female, and the male/female ratio was 1 ： 1.73;Most patients firstly noticed skin-colored and smooth papules around ala of nose before 20 years old ;There was a marked variability in disease expression not only between families but also within a family;Few patients presented with other hereditary or systemic disease. Conclusion MFT is a rare, autosomal dominantly inherited disease with high penetrance, which characterized by numerous, skin-colored, dome-shaped and finn papules and nodules around nose. The clinical features of patients are similar,but the severity is differfnt,even in the same family.
出处
《中国皮肤性病学杂志》
CAS
北大核心
2013年第4期354-356,共3页
The Chinese Journal of Dermatovenereology
基金
上海市嘉定区卫生局资助课题(KYXM:2009-12-6)
关键词
毛发上皮瘤
遗传
Trichoepithelioma
Heredity
