Progressive ossifying fibrodisplasia, also known as FOP, progressive ossifying myositis or stone man syndrome, is a very rare genetic disease that causes the ossification of the body’s soft tissues, such as ligaments, tendons, and muscles, that harden and interfere with body movements.In addition, this condition can also cause body changes.
In most cases symptoms appear during childhood, but the transformation of tissue into bone continues until adulthood, the age at which the diagnosis is made may vary, however, there are many cases in which at birth the baby already has a toy or rib.defects that can lead the pediatrician to suspect the disease.
- Although there is no cure for progressive ossifying fibrodysplasia.
- It is important that the child is always accompanied by the pediatrician and pediatric orthopedist.
- As there are forms of treatment that can help relieve certain symptoms.
- Such as swelling or joint pain.
- Improving quality of life.
The first signs of progressive ossifying fibrodysplasia usually appear shortly after birth with deformities in the toes, spine, shoulders, hips, and joints.
Other symptoms usually appear until age 20 and include
In addition, depending on the affected area, it is also common to develop heart or respiratory problems, especially when frequent respiratory infections occur.
Progressive ossifying fibrodysplasia usually affects the neck and shoulders first, then progresses to the back, trunk and limbs.
Although the disease can cause several limitations over time and significantly decrease quality of life, life expectancy is generally long, as there are usually no very serious, life-threatening complications.
The specific cause of fibrodysplasia ossificans progressiva and the process by which the tissues develop into bones are not yet well understood, however the disease is due to a genetic mutation on chromosome 2, although this mutation can be passed from parents to children, it is more common. since the disease appears randomly.
Recently, an increase in the expression of bone morphogenetic protein 4 (BMP 4) has been reported in fibroblasts present in early STE FOP.The BMP 4 protein is located on chromosome 14q22-q23.
Because it is due to a genetic alteration and there is no specific genetic test for it, the diagnosis is usually made by the pediatrician or orthopedist, by assessing symptoms and analyzing the child’s medical history.trauma that can lead to bone development at the site examined.
Often, the first finding of this condition is the presence of masses in the body’s soft tissues, which gradually decrease in size and become ossified.
There is no form of treatment that can cure the disease or prevent its development and, as a result, it is very common for most patients to be confined to a wheelchair or bed after 20 years.
When respiratory infections, such as colds or flu, occur, it is very important to go to the hospital immediately after the first symptoms to start treatment and avoid serious complications in these organs, in addition, maintaining good oral hygiene also avoids the need for dental treatment, which can lead to further bone formation attacks, which can speed up the rate of the disease.
Although limited, it is also essential to promote recreational and socialization activities for people with the disease, as their intellectual and communication skills remain intact and developing.