弹性纤维性假黄瘤一例及基因检测分析  

Pseudoxanthoma elasticum:a case report and gene mutation analysis

作　　者：乌日嘎[1] 韩建文[1] WU Riga;HAN Jianwen(Department of Dermatology,Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China)

机构地区：[1]内蒙古医科大学附属医院,内蒙古呼和浩特010050

出　　处：《中国麻风皮肤病杂志》2024年第6期419-421,共3页China Journal of Leprosy and Skin Diseases

基　　金：内蒙古自治区自然科学基金(编号:2020MS08112);内蒙古医科大学面上项目(编号:YKD2021MS039)。

摘　　要：患者,女,28岁。颈部、双肘窝皮疹无痒痛20余年。提取患者外周血DNA行全外显子基因检查可检测到ABCC6基因突变,对其变异进行一代测序验证,检出c.4404-1G>A和c.3703C>T:p.R1235W均为杂合变异。根据皮肤损害及基因检查,诊断考虑弹性纤维性假黄瘤。治疗上颈部皮下结节给予手术治疗,术后随诊6个月未复发。A 28-year-old female presented with rash on neck and fossa cubitalis without itching and pain for more than 20 years.The patient’s peripheral blood DNA was also taken for whole exome sequencing and first generation sequencing.ABCC6 gene mutation be detected by wholeexome sequencing and the heterozygous mutations of c.4404-1G>A and c.3703C>T was verified by first generation sequencing.According to skin damage and genetic examination,elastofibrous pseudoxanthoma was considered for diagnosis.Surgical treatment was given to treat subcutaneous nodules in upper neck,and no recurrence occurred after 6 months follow-up.

关 键 词：弹性纤维性假黄瘤 临床表现 基因测序 

分 类 号：R596.1[医药卫生—内科学]