Munchmeyer's Disease - Fibrodysplasia Ossificans Progressiva: A Rare Case Report

Abstract

Munchmeyer's disease or Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling connective tissue disorder involving malformation of the big toes and progressive heterotopic ossifications, which evolves in flare-ups and leads to disabling joint stiffness. We report the case of a 20-month-old infant who presented with multiple painless swellings of spontaneous and progressive onset on the back, elbow and lower limbs. These swellings were associated with bilateral hallux valgus. The radiological and CT scan findings were highly suggestive, and the diagnosis was confirmed by genetic study, which identified a mutation in the ACVR1 gene, confirming Fibrodysplasia ossificans progressiva syndrome. Epidemiological, etiopathogenic, diagnostic, evolutionary and therapeutic aspects are discussed through a review of the literature.