慢性家族性良性天疱疮3个家系临床特征及遗传学特征分析  

Analysis of clinical and genetic characteristics of chronic familial benign pemphigus in three Chinese families

作　　者：王笑宇 刘成[1] 李常兴[2] Wang Xiaoyu;Liu Cheng;Li Changxing(Department of Dermatology,Guangdong Armed Police Corps Hospital of Guangzhou Medical University,Guangzhou 510517,China;Department of Dermatology,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China)

机构地区：[1]广州医科大学附属武警广东省总队医院皮肤科,广州510517 [2]南方医科大学南方医院皮肤科,广州510515

出　　处：《国际医药卫生导报》2020年第15期2240-2243,共4页International Medicine and Health Guidance News

摘　　要：目的总结分析慢性家族性良性天疱疮(familial benign pemphigus,Hailey-Hailey disease,HHD)的临床表现和遗传学特征。方法回顾性分析3个HHD家系中9名患者的临床表型特征和家系遗传学特征分析。结果多数患者在青春期发病,皮疹表现为水疱和糜烂,部分患者伴瘙痒;皮疹分布于腹股沟、腋下、颈部和肛周等皱褶部位。3个HHD家系系谱分析显示HHD符合常染色体显性遗传模式。结论HHD符合常染色体遗传模式,在同一家系中不同患者的临床表型有一定差异。Objective To analyze the clinical and genetic characteristics of chronic familial benign pemphigus(Hailey-Hailey disease,HHD).Method The clinical and genetic characteristics of 9 patients with chronic familial benign pemphigus in three Chinese families were analyzed.Results HHD mainly occurred at puberty,rashes manifested as blisters and erosions,part of the patients were complicated with itch.The lesions commonly appeared on the flexural aspects of the body,such as groin,axilla,neck folds,and perianal region.The autosomal dominant inheritance was observed in the 3 HHD families by family tree.Conclusion HHD conformed to the autosomal dominant inheritance.The clinical phenotypes of HHD were different among patients in the same pedigree.

关 键 词：慢性家族性良性天疱疮 家系 临床 遗传学 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]