进行性对称性红斑角化症一家系的临床和遗传特点分析  

Analysis of the clinical and genetic characteristics of a progressive symmetric erythrokeratoderma

作　　者：段妍 曾抗[2] 李睿亚 梁燕华[2] 

机构地区：[1]内蒙古自治区人民医院皮肤科,呼和浩特010010 [2]南方医科大学南方医院皮肤科,广州510515

出　　处：《中国医师杂志》2016年第2期171-174,177,共5页Journal of Chinese Physician

基　　金：内蒙古自治区自然科学基金（2013MS1149）;内蒙古自治区人民医院院内基金（2012021）

摘　　要：目的探讨进行性对称性红斑角化症（PSEK）一家系的临床和遗传特点。方法对本院收集的PSEK一家系和1980年以来国内报道的17个家系的临床表型和遗传特点进行系统的对比分析。结果PSEK符合常染色体显性遗传模式；PSEK具有不完全外显率和可变性表达；PSEK典型临床表现以初发于掌跖的对称性、边界清楚角化性红斑，部分可扩展至其他部位，幼年发病，患者健康不受影响；PSEK可伴发其他临床症状，但患者疾病严重程度存在较大差异；近亲结婚可增加患本病的风险。结论PSEK具有遗传异质性，禁止近亲结婚，可降低患病的风险。本病致病基因尚未确定，有待临床进一步研究。Objective To investigate the clinical and genetic characteristics of a progressive sym- metric erythrokeratoderma （PSEK）. Methods The clinical and genetic characteristics of a PSEK were compared and analyzed with clinical collection and review of 17 PSEK families reported in China since 1980. Results PSEK was consistent with autosomal dominant inheritance. PSEK had the feature with in- complete penetrance and variable expression. The clinical features included hyperkeratotic plaques with distinct border and strikingly symmetric distribution pattern on the extremities. Part of patients was extended to other areas of the body. The onset of the disease commonly started in infancy or childhood. The general health condition was not affected. PSEK might be associated with other Clinical symptoms. The diseased potential increased in the family of consanguineous marriage. Conclusions PSEK has genetic heterogeneity. Its causative genes have not been determined. Further studies are needed.

关 键 词：红斑/遗传学 角化病/遗传学 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]