Fibrodysplasia Ossificans Progressiva: A rare case series

Abstract

Background: Fibrodysplasia ossificans progressiva is a rare autosomal dominant connective tissue disorder with a prevalence of 2 per million individuals. Activating mutation of ACVR1, a bone morphogenetic protein receptor causes ossification of extra-skeletal structures like ligaments, tendons, and aponeurosis. The characteristic findings are bilateral hallux valgus since birth and heterotopic ossification involving axial musculature beginning in the first decade of life. Diagnosis is based on the above clinical findings and radiographs or the identification of ACVR1 mutation by genetic analysis. There is no specific cure for Fibrodysplasia Ossificans Progressiva, hence prevention and treatment of flare-ups with corticosteroids, NSAID, COX2 inhibitors, and avoidance of intramuscular injections, biopsy, and surgery form the mainstay of management. Case presentation: We report 3 children a 11 year old boy, a 3 year girl and a 3 year boy with classical clinical and radiological features of Fibrodysplasia Ossificans Progressiva, two of them were misdiagnosed initially which led to exacerbation. Conclusion: Good clinical knowledge and a high index of suspicion are essential to diagnose and manage this potentially lethal and disabling condition.

Keywords

• Heterotrophic ossification
• Hallux valgus
• ACVR1