Fibrodysplasia Ossificans Progressiva (also referred to as the ‘second skeleton’ or FOP) is an extremely rare medical condition that shows documented cases as far back as the 17th century. Physicians are still stumped as to how soft tissue has the ability to transform into bone.
One of the earliest and most characteristic signs of FOP is malformed toes, which can curve and twist in abnormal directions. The disease is known to cause flare-ups without warning or emerge after the body has suffered a trauma, such as getting shots for childhood diseases, falling, or suffering a viral illness. Some people have been misdiagnosed as having cancer.
Symptoms of the Disease
The damage and deformity related to the condition greatly increases as a patient becomes older. A patient may suffer the ossification of their muscles, tendons and ligaments located in the neck, back and shoulder. Sometimes, the connective tissue in the knees, hip and elbow can turn into bone, leaving a patient with limbs that lock into a permanent position. When a patient opts for surgery to correct the fused bones, they unfortunately experience further bone formation. Their condition actually becomes worse.
In addition to the bending and curving inwardness of the big toes, patients first show signs of the disease at birth. The malformation of the toes themselves does not cause many medical problems, but is an important indicator of the condition. Other symptoms of the disease include inflammation and at times, painful swelling triggered in the shoulder and back region. The scalp or head could become affected in the early signs of the condition. Over time, the swelling decreases with the aftermath creating a new piece of mature bone.
New bone formation develops at different rates for different people. While some experience rapid growth, others encounter a more gradual process. The exact rate of progression is random and cannot be predicted. For many, a pattern to the progression eventually becomes clearer. Typically, extra bones form in the neck, shoulders, and upper back when a patient is younger. Early adulthood sees the hips and knees more affected by the condition.
Diagnosis and Treatment
A diagnosis of FOP is not necessarily a death sentence, as some people can live into his or her 70s, but pain and medical obstacles mar their lifetime journey. Sadly, the disease is progressive, meaning more bones will grow together over time. Movement is painful and sometimes impossible as they attempt to cope with the growth of ‘extra’ skeleton.
FOP is a congenital defect, meaning the condition begins before birth. However, the extra bone does not develop before the birth of a child. Symptoms (like extra bone formation) start to appear during the first 20 years of life. Usually, a clear diagnosis is known by the time a patient has turned 10 years old.
FOP is a genetic disease that strikes 1 in 2 million people , following no particular ethnic patterns. In the world, there are about 700 confirmed cases with 285 known cases residing in the United States.
Unfortunately, there is no cure and no effective treatment has been found for this medical mystery. To date, researchers are still looking for ways to control bone growth.