原发性肥厚性骨关节病一例  

A Case Report of Primary Hypertrophic Osteoarthropathy

作　　者：赵宗璇 孙丽颖 陈佳 王棪嫒 陈丹 左庆瑶 邓微 田文 ZHAO Zongxuan;SUN Liying;CHEN Jia;WANG Yanyuan;CHEN Dan;ZUO Qingyao;DENG Wei;TIAN Wen(Department of Hand Surgery,Clinical and Research Center for Congenital Hand Deformities and Rare Diseases,Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China;Department of Endocrinology,Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China)

机构地区：[1]首都医科大学附属北京积水潭医院手外科先天性手部畸形及罕见病诊疗中心,北京100035 [2]首都医科大学附属北京积水潭医院内分泌科,北京100035

出　　处：《罕见病研究》2024年第2期241-245,共5页Journal of Rare Diseases

基　　金：北京市属医院科研培育项目(PX2022013)。

摘　　要：原发性肥厚性骨关节病(PHO),又称厚皮性骨膜病,该病罕见。本文报告一例24岁男性PHO患者。14岁出现双手、双足杵状指/趾,伴腕、踝关节无痛性肿大。面部皮肤增厚,褶皱向心性增加,鼻翼宽大肥厚,痤疮,手足多汗。X线见掌、指骨及趾、跖骨增粗,双侧胫腓骨对称性骨膜骨化。PHO临床表现多样,不易诊断。本例患者不伴关节疼痛,化验检查及垂体MRI等排除肢端肥大症,基因检测提示SLCO2A1基因c.611C>T(p.Ser204Lue)及SLCO2A1基因c.1602C>A(p.Asn534Lys)杂合突变,确诊为PHO。对于幼年起病,杵状指/趾患者应警惕PHO可能,影像中骨膜成骨征象有助于鉴别,基因检测有助于确诊此病。Primary hypertrophic osteoarthropathy(PHO)is a rare disease also known as pachydermoperiostosis.We reported a painless case whose diagnosis was confirmed by genetic test.A 24yearold male presented a series of symptoms that first began at 14.He suffered from progressive clubbedfingers accompanied by swelling of the wrist and ankle joints.Facial skin concentric thickening and alar nose broadening appeared simultaneously and increased progressively.He was also prone to acne and hyperhidrosis.Xrays showed thickening of the metacarpal and phalangeal bones,as well as symmetrical periosteal ossification of both the tibia and fibula.Clinical diagnosis of PHO is difficult because of the variable features.With acromegaly excluded,the diagnosis was confirmed by a genetic test.Whole exome sequencing revealed a heterozygous SLCO2A1 c.611C>T(p.Ser204Lue)and SLCO2A1 c.1602C>A(p.Asn534Lys)mutation from each parent.It suggests that primary hypertrophic osteoarthropathy should be considered for young limb hypertrophic patients especially when periosteal thickening signs were showed in Xray.A confirmatory diagnosis can be made through the genetic test.

关 键 词：原发性肥厚性骨关节病 杵状指/趾 前列腺素E2 

分 类 号：R682[医药卫生—骨科学]