Fibroplasia Ossificans Progressiva A Case Report of a Rare Disease Entity

Abstract

BACKGROUND: Fibrodysplasia ossificans progressiva(FOP), also known as Myositis ossificans progressiva orMunchmeyer's disease, is an extremely rare and disablinggenetic condition of congenital skeletal malformations andprogressive heterotopic ossification (HO). The disease ischaracterized by congenital skeletal anomalies andprogressive ectopic bone formation in connective tissues suchas ligaments, muscles and tendons. The disease has anincidence of about 1 in 2 million population.CASE DETAILS: We report a case of a 2-year and 8-monthold male child with an initial diagnosis of soft tissue sarcomabased on fine needle aspiration (FNAC) of neck swelling.CONCLUSION: Fibroplasia ossificans progressive (FOP)characteristically manifests with bilateral malformation ofthe great toe and progressive heterotopic ossification (HO).Clinicians and radiologists should be aware of these toprevent permanent disability.