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Tuesday, February 18, 2014

What is Fibrodysplasia ossificans progressiva?

Fibrodysplasia ossificans progressiva is an extremely rare genetic disorder characterized by the spontaneous ossification of tissues.  Ossification, put simply, is the process of tissues forming into bone.  The ossification of bone can also take place when the tissues have been damaged.  

FOP was first discovered in 1692, when a French physician by the name of Guy Patin met with one of his patients afflicted with FOP.

Guy Patin (1601-1672)

His patient had tumor-like swellings over his neck, back, and shoulders with a extreme stiffness of the joints.

The first major sign of Stone Man Syndrome is a malformation of a newborn's big toe.
 
The big toes on a newborn curve inward.

Symptoms of FOP:
  • Sudden formation of tumor-like swellings
  • Inflamed tissues
  • Joint stiffness
 
FOP symptoms are usually grouped into "active phases" called flare-ups.  These flare-ups of symptoms generally last for 6-8 weeks and can be extremely painful.  When the process of ossification starts, the tissues start to swell up and this causes the joints to become stiff.  Not every flare-up ends in a complete new growth of bone.  Many times the symptoms will dissipate after several weeks and the new bone will disappear.

For more technical information, visit the HowStuffWorks page over FOP.

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