Fibrodysplasia Ossificans Progressiva: A Case Report from Albert Royer Children's University Hospital
Marie Paula Apsa Dione *
Hôpital d’enfants Albert Royer, Senegal.
Babacar Niang
Hôpital d’enfants Albert Royer, Senegal.
Rokhaya Diagne
Hôpital d’enfants Albert Royer, Senegal.
Kane Awa
Hôpital d’enfants Albert Royer, Senegal.
Aminata Mbaye
Hôpital d’enfants Albert Royer, Senegal.
Béatrice Laeticia Chendjou
Hôpital Dalal Jaam, Senegal.
Ndeye Astou Diop
Hôpital Dalal Jaam, Senegal.
Ndeye Fatou Sow
Hôpital Dalal Jaam, Senegal.
Ibrahima Diop
Hôpital d’enfants Albert Royer, Senegal.
Mame Awa Ndao
Hôpital d’enfants Albert Royer, Senegal.
Amadou Sow
Hôpital Abass Ndao, Senegal.
Papa Moctar Faye
Hôpital d’enfants Albert Royer, Senegal.
Amadou Lamine Fall
Hôpital d’enfants Albert Royer, Senegal.
Ousmane Ndiaye
Hôpital d’enfants Albert Royer, Senegal.
*Author to whom correspondence should be addressed.
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.
Keywords: Progressive ossifying myositis, congenital abnormalities, type 1 activin A receptor, bone morphogenetic protein, diarthrodial joints