There are many congenital diseases that lead to deformation of the body and organs. One of these pathologies is Proteus' syndrome. This is a serious genetic disease, in which there is increased growth of bone tissue. There are different forms of pathology, manifested in different ways. In some cases, the skin or muscle tissue grows. This syndrome is extremely rare. About 200 cases of the disease are described, some of which are unconfirmed. Pathology is dangerous not only by deformities of the body, but also by severe complications leading to death at a young age.
History of the disease
This terrible disease became known in the 19th century, when scientists became interested in Joseph Merrick performing in the freak circus. He became known to the whole world as an "elephant man". Then the name of this syndrome appeared: he was associated with the name of a mythical being - Proteus, who could take various forms. Joseph's life was developing unsuccessfully, and he spent the last years under the supervision of the English surgeon Frederick Trivz. This doctor was interested in an unusual disease of the "elephant man." Despite this, the description of the disease is only in the 70-ies of the twentieth century. Proteus' syndrome is recorded in 200 people around the world. This figure is inaccurate, since in some cases this pathology can be confused with other developmental malformations. The fact is that the disease has various manifestations. Often it takes place in an easy form, in connection with which it can not be diagnosed.
Proteus Syndrome: causes of the disease
The cause of the pathology is the mutation of the gene. It is known that our body consists of many strings of DNA transmitted from parents. In some cases, in the course of embryonic development, genetic information fails. That is why there are congenital pathologies. Proteus' syndrome is observed with changes in the ACT gene. This protein is responsible for accelerating the growth of body cells. In healthy people, the ACT gene is inactive. The severity of the disease is directly related to the period when the mutation occurred. The earlier the ACT protein was damaged, the more serious the symptoms. Scientists are still trying to understand how the genetic mutation of the same gene can accelerate the development of different tissues of the body, and on what it depends.
Symptoms of Proteus Syndrome
It is difficult to answer the question, which criteria distinguish Proteus' syndrome. Symptoms of this disease are diverse.
Despite the fact that the mutation of the gene occurs in the intrauterine period, it is impossible to diagnose pathology at the birth of a child. It is detected in early childhood. Usually the first symptoms appear in children from 2 to 5 years. Clinical manifestations of the Proteus syndrome can be as follows:
- Increase one arm or leg. In this case, the second limb develops according to age and has a normal size.
- Pathological growth of bone tissue. For this reason, man gradually loses the ability to move. Bones can increase in size and appear in places where they shouldn't be. This symptom is considered the most typical for the disease.
- Excessive growth and thickening of the skin. Usually it is observed on one side of the body: on the sole, palm, face.
- Development of oncological diseases.
Complications of Proteus Syndrome
Unfortunately, in addition to the main signs, severe complications develop in Proteus' syndrome. Most often they are associated with cancer pathologies, observed in patients. Neurological symptoms may join the main clinical manifestations. It consists in the development of convulsive syndrome, speech disorders, swallowing or vision, as well as mental retardation. Paresis and paralysis of the limbs are also possible. Pathological proliferation of tissues leads to pain in the muscles and joints. In some cases, edematous syndrome prevails. Lethal outcome arises from the malformation of the vessels of the brain or from the embolism of the pulmonary artery.
Proteus Syndrome: treatment of pathology
Given that the disease is genetic, it is impossible to eliminate its cause. The drugs for the treatment of Proteus' syndrome are not of particular importance, since they are not capable of eliminating the defects of the skeleton. The only way to make life easier for patients is surgery. It is shown with severe curvatures of the spine, severe asymmetry of the extremities, pathological growth of the skin. Patients with Proteus' syndrome should be monitored for life by an orthopedic physician, neurologist, surgeon, ophthalmologist and oncologist. Medication therapy includes only symptomatic drugs for treatment. These include vascular drugs, diuretics and painkillers. The development of plastic surgery allowed to eliminate many defects, thereby improving the appearance of patients.
Prevention of Proteus Syndrome
Proteus' syndrome is a disease that can not be diagnosed in advance. Therefore, there is no specific prevention. Control measures against this pathology are usually aimed at preventing the development of complications. These include: constant monitoring by specialists, elimination of possible defects and taking symptomatic medications. In order to prevent genetic pathologies, pregnant women are advised to avoid stressful situations, to abandon bad habits and work related to chemicals.