Objective: Fibrodysplasia ossificans progressiva is a rare genetic disorder characterized by congenital skeletal deformities and soft tissue masses that progress to heterotopic ossification. Deformities of the great toes are distinctive, and heterotopic ossification in the soft tissues follows an expected anatomic and temporal pattern. In addition to heterotopic ossification, osteochondromata, middle ear ossification, demyelination, lymphedema, and venous thrombosis are characteristic. Awareness of this constellation of findings is important to early diagnosis and surveillance.
Conclusions: Recognition of the imaging manifestations of fibrodysplasia ossificans progressiva is imperative to early diagnosis in order to appropriately direct patient care and preclude unnecessary biopsies or surgical procedures.
Keywords: FOP; Fibrodysplasia ossificans progressiva; Genetic disorder; Heterotopic ossification; Myositis ossificans progressiva; Skeletal development.