一例玻璃样纤维瘤病综合征ANTXR2基因复合杂合突变  

A case of hyaline fibromatosis syndrome caused by compound heterozygous mutations in the ANTXR2 gene

作　　者：娄桂予 杨科 张玉薇 秦利涛 祁娜 陈静 廖世秀 Lou Guiyu;Yang Ke;Zhang Yuwei;Qin Litao;Qi Na;Chen Jing;Liao Shixiu(Institution of Medical Genetics,Henan Provincial People′s Hospital,People′s Hospital of Zhengzhou University,People′s Hospital of Henan University,Zhengzhou 450003,China;Department of Dermatology,Henan Provincial People′s Hospital,People′s Hospital of Zhengzhou University,People′s Hospital of Henan University,Zhengzhou 450003,China)

机构地区：[1]河南省人民医院,郑州大学人民医院,河南大学人民医院医学遗传研究所,450003 [2]河南省人民医院,郑州大学人民医院,河南大学人民医院皮肤科,450003

出　　处：《中华皮肤科杂志》2020年第5期363-365,共3页Chinese Journal of Dermatology

基　　金：河南省自然科学基金(182300410350);河南省科技攻关项目(172102310296)。

摘　　要：患儿女,7岁5个月,头皮、双耳、双手、骶尾部多发皮肤缺损,伴四肢多关节曲屈挛缩7年余。皮肤科检查:头皮、双耳廓、双手及骶尾部皮肤缺损,牙龈肿大,四肢关节曲屈畸形并挛缩。外周血基因检测:患儿ANTXR2基因存在c.1073delC(A359Lfs*51)和c.1073dupC(A359Cfs*13)复合杂合突变,患儿母亲、父亲该基因分别为c.1073delC、c.1073dupC杂合突变。诊断:透明纤维瘤病综合征。拒绝手术治疗,予消炎、止痛等药物对症治疗。半年后患儿偶有轻度腹泻,其他症状无明显进展。A female patient aged 7 years and 5 months presented with multiple skin defects of the scalp,ears,hands and in the sacrococcygeal region,and multiple joint flexion contractures of the extremities for more than 7 years.Skin examination showed skin defects of the scalp,auricles,hands and in the sacrococcygeal region,gingival swelling,and multiple joint flexion contractures of the extremities.Genetic testing of the peripheral blood revealed 2 compound heterozygous mutations c.1073delC(A359Lfs*51)and c.1073dupC(A359Cfs*13)in the anthrax toxin receptor-2(ANTXR2)gene in the patient,which were inherited from her mother and father respectively.The patient was diagnosed with hyaline fibromatosis syndrome.Surgical treatment was rejected,and anti-inflammatory drugs,analgesics and other drugs were administered for symptomatic treatment.During follow-up of half a year,the child occasionally had mild diarrhea,and other symptoms did not progress markedly.

关 键 词：透明变性 系统性 基因检测 突变 ANTXR2基因 

分 类 号：R73[医药卫生—肿瘤]