Fibrodysplasia Ossificans Progressiva: Report of a case

Fibrodysplasia ossificans progressiva (FOP) is a rare, dominantly inherited connective tissue disorder, characterized by congenital malformations of the great toes and thumbs and progressive heterotopic ossification of soft tissues of the trunk and extremities. The ossifications typically appear within the first decade of life and result in progressive ankylosis of the joints and severe disability. So far, more than 600 cases have been reported worldwide and presently there is no effective treatment or prevention. During the early phase, particularly prior to the development of calcifications, it is often mis-diagnosed as soft tissue sarcomas or fibromatoses, which considerably delays the diagnosis, and therefore leads to unnecessary and perhaps life threatening treatments. Herein, we present a case of a 21-year-old male with FOP diagnosed late in the course of his disease.