进行性骨化性纤维发育不良三例并文献复习

Fibrodysplasia ossificans progressiva:report of three cases and literature review

目的 探讨进行性骨化性纤维发育不良的临床特征、诊断、鉴别诊断及治疗对策。方法 分析 3例进行性骨化性纤维发育不良的临床、X线特征和病情加重原因 ,并复习相关文献。结果 3例患儿 ,男性 1例 ,女性 2例 ,年龄 2～ 11岁 ,平均 5 3岁 ,起病年龄生后 10d～ 2岁 ,平均 1 7岁 ,病程 2～ 11年 ,平均 5 3年。均有反复软组织内团块状肿物 ,局部疼痛 ,肿物自行消失 ,或遗留不规则骨性肿块 ,进行性中轴和 /或四肢关节外组织骨性僵硬。X线检查 :颈部、躯干、四肢软组织内不规则骨化影。颈部软组织最易受累 ,其次为腰背、胸部、四肢、髋、臀、腹部。双侧拇、趾骨短缩 ,形态不规则。 2例骨化范围广泛 ,均在多次静脉注射、病变组织活检后 ,骨化进展加快。结论 进行性骨化性纤维发育不良是一种少见的先天性结缔组织疾病 ,病因未明。治疗措施 :避免导致异常骨化加重的刺激 ,如创伤、骨折、活检和肌肉注射等。拇趾畸形有助于早期诊断 ,尤在异位骨化发生前。易误诊为骨肉瘤、多发性骨疣、幼年类风湿关节炎、皮肌炎。

Objective To study the clinical manifestation,diagnosis,differential diagnosis and the essentials of management and treatment of fibrodysplasia ossificans progressiva (FOP).Methods Three cases of FOP were reported.The features of clinical manifestation and radiography were studied.The literature related to FOP was reviewed.Results FOP affected young children′s age of onset was between 10 days and 2 years (mean age 1 3 years).Mean disease duration was 5 3 years (range 2～11 years),and mean age 5 3 years (range 2～11 years) with sex ratio 1∶2 (boy∶girl).Soft tissue swelling in cervical and dorsal regions with or without local pain and warmth,and low fever were the early clinical manifestations.These nodules usually disappeared spontaneously,but some of nodules gradually developed ossification.The X ray features included ectopiac ossification most frequently in the soft tissue of the upper back and neck,next,the loin,chest and extremities.Two cases showed short hallux and hallux valgus.Exacerbation of the two cases was precipitated after muscle biopsy and careless venepuncture.All patients showed progressive extra articular bony ankylosis of most joints of axial and/or appendicular skeleton with severe movement restriction.Conclusion FOP is a rare and disabling genetic disorder of connective tissue.FOP should be diagnosed as early as possible and non invasively,based upon history,clinical and radiological findings.The finding of abnormalities of the great toe is helpful to diagnose FOP so that management can be early and adequate.Manogement principle includes avoiding conditions potentially provocative of abnormal ossification.The disease should be familiar to pediatricians.