A case of hyaline fibromatosis syndrome caused by compound heterozygous mutations in the ANTXR2 gene
- VernacularTitle:一例玻璃样纤维瘤病综合征 ANTXR2基因复合杂合突变
- Author:
Guiyu LOU
1
;
Ke YANG
;
Yuwei ZHANG
;
Litao QIN
;
Na QI
;
Jing CHEN
;
Shixiu LIAO
Author Information
- From: Chinese Journal of Dermatology 2020;53(5):363-365
- CountryChina
- Language:Chinese
- 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.
