Fibrodysplasia Ossificans Progressiva: A Case Report from Albert Royer Children's University Hospital

Abstract

Progressive ossifying fibrodysplasia (FOP) is a rare genetic connective tissue disorder characterized by congenital abnormalities of the big toe and progressive ectopic ossification. It is marked by the formation of extraskeletal bone and is considered a fundamental disorder of osteochondrogenesis. Despite its well-documented global prevalence, one case per two million inhabitants, FOP remains underreported in the African literature. This study aims to discuss the clinical, evolutionary, and diagnostic aspects of this rare disease by presenting a case in Albert Royer Children’s University Hospital. We report the case of a 7-year-old boy, born to second-degree consanguineous parents, with normal psychomotor development and no significant family or perinatal history. He was presented with painful swellings of the cervical–dorsal region and upper limbs, which first appeared at 18 months of age as hard nodules on the posterior neck. Over the years, the swellings spread to the trunk and upper limbs, becoming increasingly debilitating and causing difficulty in walking. The diagnosis of FOP was made on clinical and radiological grounds which showed heterotopic ossification with bone bridges. He was placed on symptomatic treatment with regular follow-ups every 6 months.