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,座疮,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.
Abstract
Primary hypertrophic osteoarthropathy(PHO)is a rare disease also known as pachydermo-periostosis.We reported a painless case whose diagnosis was confirmed by genetic test.A 24-year-old male presented a series of symptoms that first began at 14.He suffered from progressive clubbed-fingers accompa-nied by swelling of the wrist and ankle joints.Facial skin concentric thickening and alar nose broadening ap-peared simultaneously and increased progressively.He was also prone to acne and hyperhidrosis.X-rays 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 acromeg-aly 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 par-ent.It suggests that primary hypertrophic osteoarthropathy should be considered for young limb hypertrophic patients especially when periosteal thickening signs were showed in X-ray.A confirmatory diagnosis can be made through the genetic test.
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