Birhanu Reta

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AbstractFibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder characterized by congenital malformation of the great toe and heterotopic ossification in the connective tissue of muscles, tendons, ligaments, fascia, and aponeurosis. It has an incidence of 1 in 2 million, with fewer than 700 reported cases worldwide to date. The aim of this case report is to highlight clinical features of FOP to facilitate early diagnosis and minimize the impact of its delayed diagnosis. We report a case of a 42-year-old man who presented with multiple soft tissue swellings of 30 years duration, later leading to an inability to move. Physical examination findings included firm to hard tender masses over bilateral forearms, left arm, anterior and posterior chest, bilateral hips, and bilateral distal thighs, along with bilateral subtle hallux valgus. He had been visiting nearby health centers for the past 30 years, but a diagnosis was not made until his current visit. Based on the clinical finding of hallux valgus and radiologic evidence of extraskeletal ossifications, a diagnosis of FOP was made. He is currently on analgesics and receives a short course of corticosteroids during flare-ups. Although rare, primary care physicians should consider FOP in patients presenting with soft tissue ossifications to minimize suffering and disability due to delayed diagnosis. While the confirmatory diagnostic modality for FOP is genetic test, for low-income countries where the genetic test is not easily accessible, clinical diagnosis should be considered to prevent unnecessary disease progression.Key words : Fibrodysplasia ossificans; Heterotopic ossification; Stoneman disease; case report