Abstract

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant genetic transmitted disease, with a rare incidence (1-2 cases/million persons) and it usually affects female patients. Its manifestations include acute pain episodes that tend to repeat, involving the soft tissue and the axial muscles with later appearance of ectopic bone tissue in ligaments, joints and tendons. In the great majority of times, the skeletal modifications are observed at birth but the first clinical symptoms occur at 2-4 years old. The clinical symptoms include pain and inflammation of the soft tissue, sometimes associated with fever and cutaneous erythema, joint symptoms – pain, stiffness most frequently concerning the scapular and pelvic girdle, bone malformations – short hallux, microdactilia, kyphoscoliosis, thorax malformations. The diagnosis is established based on the clinical symptoms and the imagistic investigations: CT, MRI – which indicate the joint modification and the ectopic bone tissue. Muscular biopsy is not indicated as it leads to new lesions in the already traumatized areas.