慢性家族性良性天疱疮合并尖锐湿疣1例及其家系的临床及基因突变分析  

A Case of Hailey-Hailey Disease Complicated with Condyloma Acuminatum and Clinical and Genetic Mutation Analysis of Its Pedigree

作　　者：郑洁 蔡新颖[1] 肖风丽[1] ZHENG Jie;CAI Xinying;XIAO Fengli(Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei 230032,China)

机构地区：[1]安徽医科大学皮肤病研究所安徽医科大学第一附属医院皮肤性病科

出　　处：《中国皮肤性病学杂志》2019年第6期623-627,共5页The Chinese Journal of Dermatovenereology

基　　金：安徽省自然科学基金资助项目(1708085MH217);安徽省学术和技术带头人及后备人选学术科研活动资助项目(2017D141);国家自然基金(81172838)

摘　　要：目的分析1例慢性家族性良性天疱疮(Hailey-Hailey disease,HHD)合并尖锐湿疣(condyloma acuminatum,CA)患者的临床特征及治疗方法,并鉴定基因突变。方法收集该患者及其家系的临床资料和血样,采用聚合酶链反应方法扩增ATP2C1基因的全部外显子并测序。结果基因测序发现患者与其次子ATP2C1基因21号外显子有错义突变TM661R。该患者予以阿维A口服治疗,病情得以控制。结论对HHD进行基因测序分析是可行有效的诊断方法。对于HHD合并尖锐湿疣患者,口服阿维A是一种有效的治疗方法。Objective To analyze the clinical characteristics and treatment of familial benign chronic pemphigus(Hailey-Hailey disease,HHD)complicated with condyloma acuminatum(CA)and detect gene mutations.Methods The clinical data and peripheral blood samples of a HHD patient complicated with condyloma acuminatum and its families were collected,the exons of the ATP2C1 gene were amplified and sequenced by PCR.Results A missense mutation TM661R in exon 21 of ATP2C1 gene was detected in the patient and her younger son.This patient was treated with oral acitretin and had a good effect.Conclusion Gene sequencing detection is a feasible and effective method for diagnosis of a HHD patient.Oral acitretin is an effective treatment for HHD with condyloma acuminatum.

关 键 词：慢性家族性良性天疱疮 ATP2C1基因 尖锐湿疣 阿维A 

分 类 号：R758.66[医药卫生—皮肤病学与性病学] R752.53[医药卫生—临床医学]