Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report a male child who had bilateral Hallux Valgus and firm swelling over lower back region since birth. At 3 years of age, he developed restriction of neck movement which gradually progressed and within 1 year duration involved multiple joints, restricting movement of hip, shoulder, spine and knee. Patient was not able to bend forward, squat or turn head to either side. Patient also had acyanotic congenital heart disease. Multiple foci of ossification developed over bilateral shoulder, right hip and lower back region. Patient has not developed episodes of crisis yet and all swellings and restrictions are painless. A review showed few similar case reports in the Brazilian literature. We revisited the criteria for diagnosis and the essentials of management and treatment. [Natl J of Med Res 2013; 3(1.000): 100-102]