[1]郑洁,蔡新颖,肖风丽.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[J].中国皮肤性病学杂志,2019,(06):623-627.[doi:10.13735/j.cjdv.1001-7089.201810038]
 ZHENG Jie,CAI Xinying,XIAO Fengli.A Case of Hailey-Hailey Disease Complicated with Condyloma Acuminatum and Clinical and Genetic Mutation Analysis of Its Pedigree[J].The Chinese Journal of Dermatovenereology,2019,(06):623-627.[doi:10.13735/j.cjdv.1001-7089.201810038]
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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
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2019年06期
页码:
623-627
栏目:
论著
出版日期:
2019-05-16

文章信息/Info

Title:
A Case of Hailey-Hailey Disease Complicated with Condyloma Acuminatum and Clinical and Genetic Mutation Analysis of Its Pedigree
文章编号:
1001-7089(2019)06-0623-05
作者:
郑洁蔡新颖肖风丽
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,安徽 合肥 230032
Author(s):
ZHENG JieCAI XinyingXIAO Fengli
(Department of Dermatology,the First Affiliated Hospital of Anhui Medical University,Hefei 230032,China)
关键词:
慢性家族性良性天疱疮 ATP2C1基因 尖锐湿疣 阿维A
Keywords:
Familial benign chronic pemphigus ATP2C1 gene Condyloma acuminatum Acitretin
分类号:
R 758.66; R 752.53
DOI:
10.13735/j.cjdv.1001-7089.201810038
文献标志码:
A
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。
Abstract:
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.

参考文献/References:


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备注/Memo

备注/Memo:
[基金项目] 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)
[作者单位] 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,安徽 合肥 230032
[通讯作者] 肖风丽,E-mail:xiaofengli@126.com
更新日期/Last Update: 2019-05-16