Chinese Journal of Dermatology ›› 2020, Vol. 53 ›› Issue (5): 363-365.doi: 10.35541/cjd.20190450

• Research Reports • Previous Articles     Next Articles

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 Online:2020-05-15 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)

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