[Fibrodysplasia ossificans progressiva in children. The interest of early diagnosis and treatment]. / Fibrose ossifiante progressive de l'enfant. Intérêt d'un diagnostic et d'une prise en charge précoces.

INTRODUCTION: A rare genetic disease (with around a hundred cases in France), fibrodysplasia ossificans progressiva is characterized by heterotopic ossification and congenital malformation of the bones. It is worsened by physical trauma, progresses in successive flares and slowly results in total confinement of the children because of the calcification of the muscles and ankylosis of all the joints. OBSERVATIONS: We report the case of two children exhibiting fibrodysplasia ossificans progressiva in whom diagnosis was delayed at the age of 4 and 18 months respectively. DISCUSSION: Fibrodysplasia ossificans progressiva must be diagnosed during the neonate period. Early treatment will help to avoid the factors of aggravation, slow the progression of the disease and provide the children with improved quality of life. Unfortunately, there is no efficient treatment, bisphosphonates and corticosteroids are only beneficial during the flares. Hope for the future relies on gene therapy.