中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (8): 560-564.doi: 10.12144/zgmfskin202408560

• 论著 • 上一篇    下一篇

SLCO2A1基因突变致厚皮性骨膜病一例

苏敏,宋书林,孙崇玲,张慧芳,郭晓锋,汪凯,李明   

  1. 三峡大学第一临床医学院，宜昌市中心人民医院，风湿免疫科/三峡大学自身免疫性疾病研究所，湖北宜昌，443000
  • 出版日期:2024-08-15 发布日期:2024-07-29

Pachydermoperiostosis with SLCO2A1 gene mutation: a case report and literature review

SU Min, SONG Shulin, SUN Chongling, ZHANG Huifang, GUO Xiaofeng, WANG Kai, LI Ming   

  1. Department of Rheumatology and Immunology, The First College of Clinical Medical Science, China Three Gorges University; Yichang Central People’s Hospital; The Institute of Autoimmune Disease of China Three Gorges University, Yichang 443000, China
  • Online:2024-08-15 Published:2024-07-29

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摘要： 厚皮性骨膜病是一种罕见的遗传性疾病。本例男性患者，17岁，关节肿胀2年，体格检查发现前额横行皱纹、杵状指、鹦鹉嘴样甲、多发痤疮、毛囊炎，影像学检查提示骨皮质增厚、骨膜增厚、关节炎，高通量测序联合Sanger测序验证发现SLCO2A1基因突变，1个致病［c.941-1G>A(p.?)］的杂合变异和1个疑似致病［c.1286A>G(p.Tyr429Cys)］的杂合变异。对患者父母上述基因位点行遗传追踪，患者母亲携带c.941-1G>A(p.?)，患者父亲携带c.1286A>G(p.Tyr429Cys）。给予非甾体抗炎药治疗后症状明显减轻。

关键词: 厚皮性骨膜病, SLCO2A1基因, 前列腺素E2

Abstract: Pachydermoperiostosis is a rare genetic disease. Herein, we report a 17-year-old male  presented with joint swelling for 2 years. Physical examination revealed forehead transverse wrinkles, clubbing fingers, parrot-mouth-like nail, multiple acne, folliculitis. Imageological examination showed thickened bone cortex, thickened periosteum, arthritis. High-throughput sequencing combined with Sanger sequencing confirmed the mutations of SLCO2A1 gene, including one heterozygous variation ［c.941-1G>A(p.?)］ and one suspected pathogenic variant ［c.1286A>G(p.Tyr429Cys)］. Genetic detecting was performed on the above gene loci of the patient's parents, and the mother carried c.941-1G>A(p.?) and the father carried c.1286A>G(p.Tyr429Cys). The symptoms were obviously alleviated after treatment with NSAIDS.

Key words: pachydermoperiostosis, SLCO2A1 gene, PGE2