Neurofibromatosis

General characteristic of a disease

The neurofibromatosis (or a disease of Recklinghausen) concerns to a certain group of pathologies – fakomatoz. Such pathology is caused by disturbance of exchange in an organism in general which is caused by damage of the gene which is responsible for synthesis of any important enzyme. This disease affects many bodies and even the whole systems. Malformations of skin, a nervous system, eyes, internals, etc. are possible. Thus, the neurofibromatosis is факоматоз with considerable defeats of a skin surface.

Externally it represents a set of spots on skin of coffee and milk color, neurofibromas and pigmental gamarty irises (small knots of the Bream).

Diagnosis and purposes of the corresponding treatment of a neurofibromatosis it is complicated by the fact that this pathology is studied not up to the end. Doctors cannot carry this disease to any one section of medicine because a number of bodies is surprised, and various tumors on skin develop. It is necessary to tell that their emergence has no accurate medical explanations too and, unfortunately, there are no prevention methods.

Neurofibromatosis reasons

It is unambiguously possible to tell that the neurofibromatosis in 50% of cases is a disease genetic and hereditary which influences all cells of a nervous crest without exception: schwannian cells, lemmocytes, melanocytes and endoneural fibroblasts.

As a result of reproduction of their cellular elements in all organism the tumor is formed. The disease a neurofibromatosis is a cause of infringement of functioning of melanocytes that leads to emergence of a causeless nevus pigmentosus and other disturbances in pigmentation.

The tumor can develop in the form of hypodermic cones, color spots, there can also be problems with a skeleton, impact on the bases of spinal nerves and emergence of other neurologic problems is possible.

The neurofibromatosis means that even at inheritance of only one copy of a defective gene, the disease will develop all the same. If one of parents has a damaged gene, then his children will inherit 50% of probability of development of this disease. Weight of an illness depends on gene expression level.

However the result of natural mutation is the reason of a neurofibromatosis of the second half of all known cases, i.e. heredity was not a decisive factor. It is impossible to tell who has more often this disease, men or women, the statistics – is identical.

The neurofibromatosis at children most often is an inborn form since cases of an acquired disease meet at advanced age.

Types of a neurofibromatosis

Allocate six types of the studied neurofibromatosis forms:

The main (classical) first type is the disease known as "a disease a background of Recklinghausen". It is the most common form which meets in 90% of cases.

The neurofibromatosis of the II type (mixed) on the signs is rather close to the first type, but skin defects – are less noticeable, and the main symptoms are a manifestation of a neurinoma of an acoustical nerve and signs which indicate inflammatory processes of a neurinoma in a head or spinal cord. At the age of 20-30 years development of a tumor in the central nervous system is possible. Existence of a soft, but large nevus pigmentosus, and also big quantity of neurofibromas in palms is characteristic of a disease of a neurofibromatosis of this kind.

The neurofibromatosis of the III type is characterized by existence of numerous skin neurofibromas which can cause a glioma of an optic nerve, a meningioma and a neurolemma.

The neurofibromatosis of the IV type (segmented) strikes only one certain site of skin.

The neurofibromatosis of the V type is characteristic total absence of neurofibromas, there is only nevus pigmentosus.

The neurofibromatosis of the VI type differs in the late manifestation (in the form of emergence of neurofibromas) aged after 20 years, and most often is acquired.

Neurofibromatosis symptoms

The disease in itself a neurofibromatosis has no accurate symptoms, and its manifestation at each patient – individually. Plexiform neuromuscular, optical gliomas or neurinoma of an acoustical nerve are possible. But malignant transformation of a neuromuscular nerve of which the neyrofibrosorkoma is result is most often observed.

The reasons of a neurofibromatosis can cause emergence of intellectual deviations, however does not cause serious mental diseases. It is connected with pressure of the formed tumor upon a nervous system. A neurofibromatosis at children against the background of development of a macrocephalia (the increase in a brain proceeding with lag of intellectual development) which develop into epilepsy is possible. These sick children also get into risk group of development of leukemia.

External symptoms of a neurofibromatosis (in the form of cones, spots, etc.) look very unpleasantly, and been quite seriously ill to adapt in society, to find contact with people around.

Treatment of a neurofibromatosis

Radical methods of therapy at such disease just do not exist therefore treatment of a neurofibromatosis is symptomatic.

Specialists appoint drugs which contribute to normalization (though partial) the broken exchange processes. The course of treatment and a specific method – are completely individual, and depend on results of inspections not only of the doctor geneticist, but also the orthopedist, the neurologist, the oncologist, the ophthalmologist, etc.

Cases of development of a tumor which provokes emergence of other diseases and has the increased danger to the patient are known. Therefore for treatment of a neurofibromatosis in such cases perform several surgeries. Depending on a tumor location, the gamma knife can be applied.

If the person who is ill a neurofibromatosis begins to become deaf, then perform operation on a decompression of tumors in a zone of a preddverno-snail nerve.

As prevention of a disease a neurofibromatosis recommend carrying out medicogenetic consultations.