进行性骨化性纤维发育不良——附2例报告并文献复习

Fibrodysplasia Ossificans Progressiva (FOB):2cases report and review of the literature

目的探讨进行性骨化性纤维发育不良的临床特征、影像诊断及鉴别诊断。方法分析2例(父女关系)进行性骨化性纤维发育不良的临床表现、影像特征和病情发展,并复习相关文献。结果本组病例均有拇指细小,全身多处软组织团块状肿胀,多处筋膜、韧带、肌腱可见多发条片状高密度异位骨化影。结论骨化性纤维发育不良的诊断主要依赖于其渐进性的病程特点和典型畸形及相应的影像学改变,其影像特征具有较高的诊断价值。本病在活动期不宜手术,否则易引起复发并加重病情。

Objective To investigate the clinical feature and the diagnosis of imaging offibrodysplasia ossificans progressiva (FOB) and it’s differential diagnosis. Methods wereport two cases of fibrodysplasia ossificans progressiva that their relationship is the farter andthe daughter. And analyse the clinical and imaging feature of FOB and it’s progression.Results In the two cases, we found both of them was little pollex, and many masses wasin soft tissue in the whole body, and the X ray and the CT examination revealed thatheterotopic ossifications were found in fascia, ligament and tendon. Conclusion The diagnosisof FOB mainly is based on the progressive episodes of clinical change, typical abnormality ofbody and the related imaging feature. The imaging feature has high value for the diagnosisof FOB. And surgery therapy should be avoided on its active phase, otherwise it wouldaccelerate the progress of this disease.