Fibrodysplasia ossificans progressiva:report of three cases and literature review / 中华风湿病学杂志

ABSTRACT

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.