摘要
目的 了解中国人毛囊角化病的临床表现和遗传特点.方法 以近10年来国内报道的毛囊角化病家系进行系统的临床和遗传特点分析.结果 （1）毛囊角化病为常染色体显性遗传;（2）中国人毛囊角化病的典型临床表现为皮脂溢出部位毛囊角化性丘疹;（3）家系的报道以小家系多见,一些家系中男女比例不等;（4）家系中出现不规则显性;（5）同一家系中不同患者表现度不同.结论 毛囊角化病是一种高度外显率的常染色体显性遗传病,临床表现是以毛囊角化性丘疹为特征,可合并其他症状,不同患者表现度可存在差异.
Objective To characterize the clinical and genetic features of Darier＇s disease. Methods The clinical and genetic data from 1 case in a family were analyzed, and compared with 13 pedigrees of Darier＇s disease reported in the Chinese literature since 1999. Results （ 1 ） The inheritance pattern of Darier＇s disease was antosomal dominant. （2） It was characterized by keratotic papules in a seborrheic distribution. （3）Most of the reported pedigree were small, so that the proportion of males to females weren＇t 1： 1. （4）Some families showed a pattern of irregular dominance. （5）There was a marked variabity in desease expression not only between families but also within a family. Conclusion Darier＇s disease generally shows an autosomal dominant pattern of inheritance with high penetrance, and it isn＇t an uncommant disease in Cchinese. The typical Darier＇s disease is characterized by numerous hyperkeratotic papules and there is difference in phenotype among the individuals.
出处
《中外医学研究》
2010年第15期137-138,共2页
CHINESE AND FOREIGN MEDICAL RESEARCH
