Monday, 27 February 2012

IMFW: Turned Into Bone

This week's IMFW is about an extremely rare and extremely curious genetic illness: fibrodysplasia ossificans progressiva. In this disease, fibrous tissue such as muscle, tendons and ligaments are ossified - literally turned into bone - when damaged.

As you can imagine, the illness causes severe disability, with sufferers becoming slowly trapped inside immovable sheets of bone; new growths of bone often join up with the main skeleton. Bone growths may leave patients unable to eat, speak, sit down or even breathe as the growing bones compress the lungs. Attempts to remove the excess bone usually only results in further growth, because any injury (such as surgery) to fibrous tissue is liable to result in ossification of that tissue. The notable early symptom of this illness is that babies with the genetic mutation which causes fibrodysplasia ossificans progressiva are usually born with deformed big toes; however, the illness is so rare that sufferers are often misdiagnosed, and the bone growths taken to be cancerous tumours.

One notable sufferer was Harry Eastlack, who died before his fortieth birthday and bequeathed his skeleton to medical science. You can see a photograph of it here.

Although the genetic mutation which causes this condition has been identified, there is no cure and no real treatment.

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