Fibrodysplasia Ossificans Progressiva: A Rare Crippling And Disabling Disorder

Abstract

Fibrodysplasia ossificans progressiva, (FOP), the most disabling condition of extra skeletal ossification is a rare genetic disorder which causes immobility through progressive metamorphosis of skeletal muscles and soft connective tissue into a second skeleton of heterotopic bone. It presents classically at birth with clinical features that make diagnosis certain. It is however frequently misdiagnosed because of its rarity, and paucity of knowledge. This may lead to a delay in presentation with its antecedent effect on morbidity, or outright harmful interventions that lead to increased morbidity and mortality. At present there is no cure.
We report two patients who presented with progressive stiffness of joints involving the shoulders, neck, knees, and hips as well as nodular swellings in the trunk and diffuse swellings of the appendicular skeleton. One of the patient had multiple interventions Intra-muscular injections, biopsies, and incisions by unorthodox medical practioners with associated worsening of her conditions. In addition to the nodular swellings and heterotopic ossification they were found to have symmetrical malformation of the great toes a classical feature of Fibrodysplasia ossificans progressiva (FOP) which when recognized early can make diagnosis certain and avoid interventions that tend to worsen progression of the disease. The need to draw attention of the medical world to this rare disabling disease prompted us to review the literature of Fibrodysplasia ossificans progressiva.

Key Words: Fibrodysplasia ossificans progressiva, symmetrical big toe malformation,absence of cure.