Neurofibromatosis - Causes and Signs of Neurofibromatosis

Depending on the specifics of the manifestations, this disease is divided into several main varieties (types):

• the first type is most common among children (called classical). It is worth noting that the likelihood of the disease does not depend on gender, so the risk is equal for both boys and girls;
• the second form eventually causes a serious complication - complete hearing loss, although it occurs much less often in practice - the probability is 1 in 50 thousand;
• the third type is called mixed and cannot be classified as a disease that affects at a young age. The risk group is people aged 20 to 30 years. The disease develops rapidly and leads to the development of tumors on the elements of the central nervous system;
• the fourth type of neurofibromatosis can be recognized by the significant coverage of the patient's body with numerous neurofibromas;
• the next type is characterized by the fact that the main manifestation is a visual increase in a certain area of the body, which visually allows you to track the violation of symmetry;
• the sixth type of the disease has practically no manifestations, the only sign is skin pigmentation;
• and finally, the last type of the disease is the seventh. It is observed exclusively in people over 20 years of age, and is accompanied by the appearance of numerous neurofibromas on the body.

Causes

Today, the disease has not been fully studied, and it is quite difficult to determine it for a specific group or prescribe truly effective preventive measures. Only two root causes of the development of pathology are known for sure:

• hereditary factor;
• consequence of spontaneous mutation.

In the first case, the presence of the disease affects all cells of the body without exception, cellular elements multiply and tumors appear. The pathology also causes serious pigmentation disorders - numerous spots appear for no apparent reason.

If at least one of the parents suffered from such a disease, it can begin to develop in the child with a 50 percent probability, that is, even one gene with a defect is enough.

In other cases of neurofibromatosis, the gene mutation is not hereditary, but occurs spontaneously. It is here that specific causes and risk group factors cannot be named.

Symptoms

Often the first sign of the disease, which signals parents about certain problems in the baby, are spots on the body, colored in the color of milky coffee. Benign tumors - neurofibromas - can also appear, because of which the disease got its name. The main problem is that under the influence of certain factors such tumors can change and acquire a dangerous malignant character.

In children, the development of such a disease leads to the following consequences:

• developmental delays;
• in some cases, neurofibromatosis causes mental retardation;
• the disease can provoke serious visual impairment.

Disorders in the functioning of the musculoskeletal system, the risk of developing a tumor of the thyroid and adrenal glands, bone deformations - all this can indicate the presence of such a serious disease as neurofibromatosis.

Changes in pigmentation, the appearance of tumors in the form of "bumps" under the skin, the development of asymmetry of body parts are far from the only symptoms indicating neurofibromatosis. Clear manifestations that can be traced in any case of the appearance of the disease are absent, the symptoms are of the nature individual.

Diagnostics

A neurologist makes a diagnosis based on a study of the patient's current condition and the results of a number of studies. Neurofibromatosis is often detected if a person has two or more typical symptoms (the presence of light-brown pigment spots in large quantities, increased pigmentation, developed neurofibromas, bone tissue abnormalities, etc.). The following studies help to make a final diagnosis: X-ray, blood test to identify genetic abnormalities typical for the development of the disease, and other hardware-type studies.

Treatment

It is currently not possible to completely cure the disease, so treatment is exclusively symptomatic. That is, drug therapy is used to eliminate disorders, as well as surgical methods to remove tumors and smooth out some cosmetic defects that often result from the development of neurofibromatosis.

Prevention

Due to the fact that the factors causing the development of the disease have not been reliably established, preventive measures cannot be developed. The only thing that experts advise is to seek genetic counseling.