Recurrent trauma and non-operative management of femoral fracture in fibrodysplasia ossificans progressiva: a pediatric case report

Abstract

Fibrodysplasia Ossificans Progressiva (FOP) is an ultrarare autosomal dominant disorder caused by ACVR1 gene mutations, leading to dysregulated bone morphogenetic protein (BMP) signaling. It is characterized by congenital great toe malformations and progressive, trauma-induced heterotopic ossification (HO). Misdiagnosis is common, and invasive procedures can exacerbate HO. Current management focuses on flare-up control and trauma prevention. A 12-year-old Asian boy presented with a left femoral fracture. His history included developmental delay, and HO formation after a prior forearm fracture surgery and other traumas, resulting in progressively limited joint mobility. Physical examination revealed bilateral hallux valgus and multiple hard masses. Imaging confirmed extensive HO. To avoid surgery-induced ossification, closed reduction and casting were performed, alongside comprehensive trauma prophylaxis education and follow-up planning. This case highlights the critical importance of early recognition of FOP, with particular attention to distinctive great toe abnormalities, to prevent harmful interventions. The established diagnosis and chosen non-operative management underscore the value of a multidisciplinary approach, including genetic testing, conservative orthopedics, and rehabilitation. Enhancing clinician awareness to reduce misdiagnosis and providing timely, evidence-based patient education are essential to mitigate disease progression through rigorous trauma avoidance.