Fibrodysplasia ossificans progressiva in early childhood: diagnostic hallmarks and prevention of iatrogenic harm – a case report

Introduction and importance: Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling disorder involving progressive heterotopic ossification. Early recognition matters because biopsies, intramuscular injections, surgery, and trauma may precipitate flare-ups. Presentation of case: A 4-year-old boy presented with progressive paraspinal swellings and congenital bilateral great-toe abnormalities. Imaging showed extensive heterotopic ossification, bilateral proximal tibial osteochondromas, and thumb and femoral-neck abnormalities. FOP was diagnosed clinically; ACVR1 testing was unavailable locally during the wartime setting, and external testing was not pursued because of cost. During 12 months of follow-up, the family reported approximately four flare-ups, mostly after upper respiratory infections. Right shoulder elevation and strength declined, but the child remained independently ambulatory with preserved lower-limb function. The family also reported possible hearing decline, which was not confirmed by repeat audiometry, and expressed concern about the child’s future and access to treatment. Clinical discussion: The combined congenital and progressive skeletal findings supported FOP and prompted the avoidance of biopsy and unnecessary surgery. The case highlights the need for early clinical recognition and preventive counseling in settings where molecular testing and disease-specific treatment are difficult to access. Conclusion: Independent ambulation was maintained during the observed follow-up, but this outcome cannot be causally attributed to counseling. Family-reported flare-ups and hearing changes were not objectively confirmed.