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 enhanced bone growth. There are various forms of pathology that manifest themselves in different ways. In some cases, the growth of skin or muscle tissue occurs. This syndrome is extremely rare. About 200 cases of the disease have been described, some of which are unconfirmed. Pathology is dangerous not only deformations of the body, but also 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 circus of monsters. He became known around the world as the "man-elephant". Then the name of this syndrome appeared: it was associated with the name of a mythical creature - Proteus, which could take on different forms. Joseph's life was unsuccessful, and he spent the last years under the supervision of the English surgeon Frederick Trives. This doctor is interested in the unusual disease of the "human elephant". Despite this, the description of the disease occurs only in the 70s 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 malformations. The fact is that the disease has various manifestations. Often it takes place in a light form, and therefore it can not be diagnosed.
Proteus syndrome: causes of the disease
The cause of the pathology is a gene mutation. It is known that our body consists of a set of DNA chains, transmitted from parents. In some cases, genetic information fails during embryonic development. That is why congenital pathologies arise. 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 sooner the AKT protein is damaged, the more severe the symptoms. Scientists are still trying to understand how a 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 of exactly what criteria distinguish Proteus syndrome. The symptoms of this disease are varied.
Despite the fact that a gene mutation occurs in the prenatal period, it is impossible to diagnose pathology at 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 Proteus syndrome may 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. It is usually observed on one side of the body: on the sole, palm, face.
- The development of cancer.
Complications of Proteus Syndrome
Unfortunately, in addition to the main symptoms, severe complications develop in Proteus syndrome. Most often they are associated with oncological pathologies observed in patients. Neurological symptoms may join the main clinical manifestations. It consists in the development of convulsive syndrome, impaired speech, swallowing or vision, as well as mental retardation. Paresis and paralysis of the limbs are also possible. Pathological growth of tissues leads to pain in muscles and joints. In some cases, edematous syndrome prevails. Fatal outcome is due to malformation of the cerebral vessels or pulmonary embolism.
Protea syndrome: treatment of pathology
Considering that the disease is genetic, it is impossible to eliminate its cause. Preparations for the treatment of Proteus syndrome are not of particular importance, since they are not able to eliminate skeletal defects. The only way to make life easier for patients is surgery. It is indicated for severe spinal curvatures, strong asymmetry of the limbs, and pathological growth of the skin. Patients with Proteus syndrome should be monitored for life by an orthopedic surgeon, a neuropathologist, a surgeon, an ophthalmologist, and an oncologist. Drug therapy includes only symptomatic drugs for treatment. These include vascular agents, diuretics and pain pills. The development of plastic surgery allowed to eliminate many defects, thereby improving the appearance of patients.
Prevent Syndrome Prevention
Proteus syndrome is a disease that cannot be diagnosed in advance. Therefore, there is no specific prevention. Measures to combat this pathology are usually aimed at preventing the development of complications. These include: constant monitoring by specialists, elimination of possible defects and taking symptomatic drugs. In order to prevent genetic pathologies, pregnant women are advised to avoid stressful situations, to give up bad habits and work related to chemicals.