Fibrodysplasia Ossificans Progressive (FOP) is a very rare genetic connective tissue disorder. It is also known as stone man syndrome. With this condition, there is the abnormal development of bone in areas where bones typically would not be. Ligaments, tendons, and muscles regenerate as bone in response to damage, slowly turning the body into a stone, and causing immobility due to the presence of bone instead of connective tissue. Joints start to lock in place as the skeletal muscle and soft connective tissue surrounding them undergo a drastic change.
Early signs of FOP can be seen shortly after birth with patients being born with a malformed big toe. From an early age, these skeletal malformations can occur. Typically, the neck and back are affected first followed by the limbs and then the jaw.
FOP is a genetic condition. It is caused by the mutation of a gene – ACVR1 is involved in the bone morphogenetic protein pathway which is important for the formation of the skeleton in utero and for the repair of the skeleton following fractures in life. 1 in 2 million people is affected by FOP around the world, making it a very rare condition.
The development of this second skeleton may be rapid or gradual, it depends on the individual. The progression of the disease may result in complete immobilisation due to the complete fusion of the spine and muscles not functioning as they once did.
Individuals with FOP must avoid intramuscular injections, as this can cause a flare-up, as well as being careful not to fall as it can have severe consequences.
Surgery is not an option to remove this additional bone growth as the body will try and repair the surgical damage by making more bone.
There is no cure for FOP, but anti-inflammatory medication may suppress a flare-up and help improve an individual’s quality of life.
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