原发性肥大性骨关节病1例报告及文献复习

A case report and literature review about primary hypertrophic osteoarthropathy

目的探讨原发忭肥大性骨关节病的临床表现和X线特点，以提高对该病的认识。方法报告1例原发性肥大性骨关节病的临床表现、实验室检查、X线改变，并复习相关文献。结果原发性肥大性骨关节病是一种与遗传有关的疾病，其临床表现呈多样性，与诊断及分型相关的临床表现为骨膜成骨亢进、杵状指（趾）、面部肥厚及脑回样头皮，诊断成立尚需排除继发因素，并与肢端肥大症、甲状腺性肢端肥厚、类风湿关节炎等相鉴别。结论原发性肥大性骨关节病在国内外是一种罕见的疾病，具有较典型的临床表现及影像学特征，典型者一般不难诊断，但需排除继发性及其他疾病，应提高认识，以免漏诊或误诊，并给予对症治疗。

Objective To discuss the clinical manifestations and X - ray features of primany hypertrophic osteoarthropathy（PHOA）, and to improve the understanding of primary, hypertrophic osteoarthropathy. Methods The etiology,clinical manifestations, X - ray features, diagnosis, different diagnosis and treatment of PHOA were reviewed. Results Clinical manifestations, X - ray features, diagnosis and treatment of one patient with PHOA was a rare disease which was related to the changes of hemodynamics. In spite of the polymophic clinical manifestations, the features involved in diagnosis and classification were subperiosteal new bone formation, clubbing, thickening facial skin and gyms -like scalp. The factors that were involved in secondary PHOA should be excluded to establish the diagnosis, and PHOA should differentiate from acromegaly, thyroid hypertrophy of extremities and rheumatoid arthritis. Conclusion PHOA in China and abroad is a rare disease, with the more typical clinical and imaging features, typically are in general not difficult to diagnose, but the secondary and other diseases should be excluded. It should raise awareness, so as to avoid missed or misdiagnosed, and give symptomatic treatmerit.