Fibrodysplasia Ossificans Progressiva, also known as FOP, Myositis Ossificans Progressiva or Stone Man Syndrome, is a very rare genetic disease that causes the body’s soft tissues, such as ligaments, tendons and muscles, to ossify, becoming hard and making body movements difficult. In addition, this condition can also cause bodily changes.
In most cases, symptoms appear during childhood, but the transformation of tissues into bone continues into adulthood, and the age at which the diagnosis is made may vary. However, there are many cases in which, at birth, the baby already has malformations of the toes or ribs that can lead the pediatrician to suspect the disease.
Although there is no cure for fibrodysplasia ossificans progressive, it is important that the child is always accompanied by a pediatrician and a pediatric orthopedist, as there are forms of treatment that can help relieve some symptoms, such as swelling or joint pain, improving the quality of life. life.
The first signs of fibrodysplasia ossificans progressive usually appear shortly after birth with the presence of malformations in the toes, spine, shoulders, hips and joints.
Other symptoms typically appear by age 20 and include:
- Red swellings on the body, which disappear but leave bone in place;
- Bone development at places of blows;
- Gradual difficulty moving hands, arms, legs or feet;
- Problems with blood circulation in the limbs.
In addition, depending on the affected regions, the development of heart or respiratory problems is also common, especially when frequent respiratory infections arise.
Fibrodysplasia ossificans progressive 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 markedly decrease the quality of life, life expectancy is usually long, as very serious complications that can be life-threatening do not normally arise.
What causes fibrodysplasia
The specific cause of Fibrodysplasia Ossificans Progressiva and the process by which the tissues turn into bone are still not well understood, however, the disease arises due to a genetic mutation on chromosome 2. Although this mutation can be passed from parents to children, it is more common for the disease to arise randomly.
Recently, increased expression of bone morphogenetic protein 4 (BMP 4) in fibroblasts present in early FOP lesions has been described. The BMP 4 protein is located on chromosome 14q22-q23.
How to confirm the diagnosis
Since it is caused by a genetic alteration and there is no specific genetic test for it, the diagnosis is usually made by the pediatrician or orthopedist, through the evaluation of symptoms and analysis of the child’s clinical history. This is because other tests, such as biopsy, cause minor trauma that can lead to bone development at the examined site.
Often, the first finding of this condition is the presence of masses in the soft tissues of the body, which gradually decrease in size and ossify.
How is the treatment done?
There is no form of treatment capable of curing the disease or preventing its development and, therefore, it is very common for most patients to be confined to a wheelchair or bed after the age of 20.
When respiratory infections arise, such as flu or colds, it is very important to go to the hospital soon after the first symptoms to start treatment and avoid the emergence of serious complications in these organs. In addition, maintaining good oral hygiene also avoids the need for dental treatment, which can result in new bouts of bone formation, which can accelerate the pace of the disease.
Although they are limited, it is also essential to promote leisure and socialization activities for people with the disease, since their intellectual and communication capacity remains intact and developing.
Always consult a doctor.
Verified by RJ985 – Brazilian natural medicine CMIO.org