Fibrodysplasia ossificans progressiva: Case report

Abstract

Fibrodysplasia ossificans progressiva is a very rare inherited connective tissue disease characterized by progressive heterotopic ossification in soft tissues of the trunk and extremities with associated congenital malformation of great toes and thumbs. Episodic flare-ups of pre-osseous soft tissue swelling usually begins during early childhood and progress throughout life causing progressive ankylosis of joints with resultant severe disability. Literature review reveals that there are more than 600 reported cases so far and presently there is no prevention or effective treatment for this disorder. Imaging plays a major role in the diagnosis to prevent unnecessary harmful biopsies. We present a case of a 2-year-old boy with extensive heterotopic ossification with classical radiological findings.