中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (5): 363-365.doi: 10.35541/cjd.20190450

• 研究报道 • 上一篇    下一篇

一例玻璃样纤维瘤病综合征ANTXR2基因复合杂合突变

娄桂予1    杨科1    张玉薇1    秦利涛1    祁娜1    陈静2    廖世秀1   

  1. 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

  • 收稿日期:2019-03-29 修回日期:2019-10-02 发布日期:2020-04-30
  • 通讯作者: 廖世秀 E-mail:ychslshx@126.com
  • 基金资助:
    河南省自然科学基金（182300410350）；河南省科技攻关项目（172102310296）

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

Lou Guiyu1, Yang Ke1, Zhang Yuwei1, Qin Litao1, Qi Na1, Chen Jing2, Liao Shixiu1   

  1. 1Institution of Medical Genetics, Henan Provincial People′s Hospital, People′s Hospital of Zhengzhou University, People′s Hospital of Henan University, Zhengzhou 450003, China; 2Department of Dermatology, Henan Provincial People′s Hospital, People′s Hospital of Zhengzhou University, People′s Hospital of Henan University, Zhengzhou 450003, China
  • Received:2019-03-29 Revised:2019-10-02 Published:2020-04-30
  • Contact: Liao Shixiu E-mail:ychslshx@126.com
  • Supported by:
    Natural Science Foundation of Henan Province of China （182300410350）; Henan Provincial Research and Development Plan （172102310296）

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摘要： 【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。

关键词: 透明变性, 系统性； 基因检测； 突变； ANTXR2基因

Abstract: 【Abstract】 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.

Key words: Hyalinosis, systemic, Genetic testing, Mutation, ANTXR2 gene