厚皮性骨膜病4例临床分析  

Clinical analysis of four cases of pachydermoperiostosis

作　　者：李谦华[1] 陶志清 杨泽宏[2] 陈乐锋[1] 韦秀宁[1] 梁锦坚[1] 郑东辉[1] 戴冽[1] Li Qianhua;Tao Zhiqing;Yang Zehong;Chen Lefeng;Wei Xiuning;Liang Jinjian;Zheng Donghui;Dai Lie(Department of Rheumatology,Sun Yat-sen Memorial Hospital of Sun Yat-sen University,Guangzhou 510120,China;Department of Radiology,Sun Yat-sen Memorial Hospital of Sun Yat-sen University,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院风湿免疫科,广州510120 [2]中山大学孙逸仙纪念医院放射科,广州510120

出　　处：《中华风湿病学杂志》2025年第2期123-127,I0002,共6页Chinese Journal of Rheumatology

摘　　要：目的分析厚皮性骨膜病(PDP)的临床特征,提高对该病的认识和诊断水平。方法回顾性分析2015—2023年中山大学孙逸仙纪念医院收治的4例PDP患者的临床资料,包括临床表现、实验室检查、影像学检查及基因检测结果。结果4例患者均为男性,中位发病年龄15岁(9~18岁)。1例患者舅舅有PDP,1例患者父母为近亲结婚,但父母均无PDP表现。4例患者均有杵状指(趾)、皮肤增厚和痤疮,3例有额纹和鼻唇沟变深,2例头颅MRI成像可见头皮沟回样改变,X线均可见双手指骨骨膜增厚。1例患者合并失钾性肾病,1例患者合并胃溃疡。1例患者行全外显子基因测序,发现SLCO2A1基因c.1406C>T纯合突变,蛋白水平改变为p.Pro469Leu,REVEL、SIFT和Polyphen2计算机软件预测为有害变异。结论PDP患者除皮肤增厚、额纹变深、头皮沟回样改变、杵状指(趾)、骨膜增生等表现外,还可以出现失钾性肾病、胃溃疡等内脏受累,SLCO2A1基因c.1406C>T纯合突变可能致病。ObjectiveTo analyze the clinical features of pachydermoperiostosis(PDP)and improve its diagnostic level.MethodsA retrospective analysis was conducted on the clinical data of four patients with PDP treated at Sun Yat-sen Memorial Hospital,Sun Yat-sen University from 2015 to 2023,including clinical manifestations,laboratory tests,imaging examinations,and genetic testing results.ResultsAll four patients were male with an average onset age of 15 years old(ranging from 9 to 18 years old).One patient′s uncle had PDP,and another patient′s parents were consanguineous,though neither parent showed signs of PDP.All four patients exhibited clubbing,skin thickening,and acne;three had frontal bossing and deepened nasolabial folds;two showed scalp sulci changes on head MRI,and all had periosteal thickening of the phalanges visible on X-ray.One patient accompanied with hypokalemic nephropathy,and another had gastric ulcer.One patient underwent whole exome sequencing test which revealed a homozygous mutation,SLCO2A1 gene c.1406C>T,leading to a protein change p.Pro469Leu.Computational tools REVEL,SIFT,and Polyphen2 predicted this variant as deleterious.ConclusionIn addition to skin thickening,frontal bossing,scalp sulci changes,clubbing,and periosteal proliferation,patients with PDP may also present with hypokalemic nephropathy and gastric ulcer.The SLCO2A1 gene c.1406C>T mutation may be pathogenic.

关 键 词：厚皮性骨膜病 骨膜增生 杵状指 基因突变 

分 类 号：R681.8[医药卫生—骨科学] R681[医药卫生—外科学]