A Rare Case of Fibrodysplasia Ossificans Progressiva in a Resource Limited Setup: A Case Report

Fibrodysplasia 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 aponeuroses. It has an incidence of 1 in 2 million, with less than 700 reported cases worldwide to date. The aim of this case report is to highlight clinical features of FOP so that early diagnosis will be made and the impact of its delayed diagnosis will be minimized. We report a case of a 42-year-old man who presented with multiple soft tissue swellings of 30 years duration with later inability to move. Physical examination findings are firm to hard tender masses over bilateral forearms, left arm, anterior and posterior chest, bilateral hip, and bilateral distal thigh with bilateral subtle hallux valgus. He had been visiting nearby health centers for the last 30 years, but a diagnosis was not made until the current visit. With clinical finding of hallux valgus and radiologic finding of extraskeletal ossifications, diagnosis of FOP was made. He is on analgesics and a short course of corticosteroids during flare-ups. Even though it is rare, primary care physicians should consider FOP as a possibility in patients presenting with soft tissue ossifications to minimize suffering and disability due to delayed diagnosis. Even though the confirmatory diagnostic modality for FOP is genetic test, for low-income countries where the genetic test is not easily accessible, clinical consideration should be made to prevent unnecessary disease progression.