Bone Abstracts

Fibrodysplasia ossificans progressiva (FOP) or miyositis ossificans progressiva is a hereditary mesodermal tissue characterized by progressive ossification of striated muscle, tendon, ligament, fasciae, aponeurose and occasionally skin. A single common heterozygous mutation has been identified in the cytoplasmic domain of activin receptor IA/activin-like kinase 2 (ACVR1/ALK2). FOP is very rare with a worldwide prevalence of ~1 case in 2 million individuals. Diagnosis is based on clinical observations and radiological findings. There is often a significant delay between the onset of the disease and its diagnosis because it may be confused with infection, bruising or tumor. Disease is frequently seen in adolescents and young adults with male predominance. Treatment consists of supportive care, genetic counselling and education regarding the importance of avoiding contact sports and surgical/dental procedures. Corticosteroids, etidronate, radiotherapy and surgery have been used with limited efficacy. Etidronate has been used to prevent recurrence of ectopic ossification after removal of bone. No effective medical treatment is available. Surgical treatment is almost always contraindicated, since new heterotopic ossification can develop. We report a 33 years old man with fibrodysplasia ossificans progressiva and review literature about FOP in light of this case.

Keyword: Fibrodysplasia ossificans progressiva.