进行性对称性红斑角化症40个家系临床表型和遗传特点分析  

Analysis of clinical phenotype and genetic characteristics in 40 families of progressive symmetric erythema keratosis

作　　者：段妍 李林烨 阿苏瑞 李睿亚 王杰 刘芳芳[2] 何月 王茜[3] Duan Yan;Li Linye;A Surui;Li Ruiya;Wang Jie;Liu Fangfang;He Yue;Wang Qian(Inner Mongolia Autonomous Region People's Hospital,Inner Mongolia,Hohhot 010010,China)

机构地区：[1]内蒙古自治区人民医院皮肤科,呼和浩特市010010 [2]内蒙古医科大学 [3]南方医科大学南方医院皮肤科,广州市510000

出　　处：《疑难病杂志》2021年第7期708-711,共4页Chinese Journal of Difficult and Complicated Cases

基　　金：国家自然科学基金资助项目(81660515)。

摘　　要：目的了解进行性对称性红斑角化症(PSEK)的临床表型和遗传学特点。方法收集2个国内蒙古族非近亲婚配的PSEK家系,并利用数据库检索1980年至2020年1月国内外已发表的较为完整的PSEK家系38个,分析其临床表型和遗传学特点。结果PSEK大多数呈常染色体显性遗传;多于出生后不久或幼年发病;病变进展缓慢,青春期后稳定;典型皮损为对称分布、边界清楚的角化性红斑;最常见于双侧手足背、肘膝关节及掌跖部位;冬重夏轻,情绪、体弱等可诱发或加重;组织病理学未见特异性表现;近亲结婚会增加罹患该疾病的风险;PSEK伴发症状较多见,国外症状较重,国内最常见为指(趾)甲改变。结论蒙古族PSEK家系与其他家系比较具有PSEK的共同特征,伴发指(趾)甲改变发生率较高,扩充了中国蒙古族PESK的遗传及临床数据。Objective To understand the clinical phenotype and genetic characteristics of progressive symmetric erythema keratosis(PSEK).Methods Collected 2 PSEK families of Inner Mongolian non-consanguineous marriages,and used the database to retrieve 38 relatively complete PSEK families published at home and abroad from 1980 to Jan,2020,and analyzed their clinical phenotypes and genetic characteristics.Results Most of PSEK is inherited in an autosomal dominant manner.More onset soon after birth or in childhood.The disease progresses slowly and stabilizes after puberty.Typical skin lesions are keratinizing erythema with symmetrical distribution and clear boundaries.It is most common in the back of the hands,feet,elbows,knees,and palms and soles;it is heavy in winter and light in summer,and emotions and weakness can be induced or aggravated.No specific manifestations were seen in histopathology.Marriage of close relatives increases the risk of the disease.Symptoms associated with PSEK are more common,and the symptoms are more severe in foreign countries,and the most common in China is nail changes.Conclusion Compared with other families,the Mongolian PSEK family has the common characteristics of PSEK,and the incidence of concomitant nail changes is higher,which expands the genetic and clinical data of Chinese Mongolian PESK.

关 键 词：进行性对称性红斑角化症 临床表型 遗传特点 家系调查 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]