General characteristics of the disease
Neurofibromatosis (Recklinghausen's disease or) refers to a group of pathologies - phakomatoses. This pathology is caused by metabolic disorders in the body as a whole, which is caused by damage to the gene responsible for the synthesis of an important enzyme. The disease affects many organs and even the whole system. There are malformations of the skin, nervous system, eyes, internal organs, etc. Thus, neurofibromatosis - a phakomatoses significant lesions of the skin surface.
Externally, it is a lot of spots on the skin, milky coffee, neurofibromas and pigmented iris hamartomas (nodules Bream).
Diagnosis and appropriate treatment of neurofibromatosis is difficult because this pathology is not fully known. Doctors can not carry the disease to any one branch of medicine because it affected a number of bodies, and develop all kinds of tumors on the skin. I must say that their appearance also has no clear medical explanation, and, unfortunately, there is no prevention methods.
Reasons for neurofibromatosis
We can say that the neurofibromatosis in 50% of cases - a genetically inherited disease that affects all neural crest cells, without exception: Schwann cells, lemmotsity, melanocytes and fibroblasts endoneural.
As a result, reproduction of cellular elements throughout the body formed tumor. The disease neurofibromatosis is the cause of dysfunction of melanocytes, which leads to wanton age spots and other irregularities in pigmentation.
The tumor can appear in the form of subcutaneous lumps, colored spots may also be problems with the skeleton may impact on the base of the spinal nerves and the appearance of other neurological problems.
Neurofibromatosis implies that even if only one copy of the inheritance of a defective gene, the disease will still develop. If one parent has a damaged gene, his children will inherit 50% chance of developing the disease. The severity of the disease depends on the level of gene expression.
However, the cause of neurofibromatosis second half of known cases is the result of a spontaneous mutation, ie, Heredity was not the deciding factor. You can not tell who is sick with the disease more often, men or women, statistics - the same.
Neurofibromatosis in children is most often a congenital form, as cases acquired the disease occur at an older age.
Types of neurofibromatosis
There are six types studied forms of neurofibromatosis:
The major (classic) is the first type of the disease known as "Von Recklinghausen's disease." This - the most common form, which occurs in 90% of cases.
Neurofibromatosis type II (mixed) in their characteristics sufficiently close to the first type, but skin defects - less noticeable, and the main symptoms - a manifestation acoustic neuroma and features that indicate the neuroma inflammatory processes in the brain or spinal cord. At the age of 20-30 years may develop tumors in the central nervous system. For this type of disease is characterized by a pale neyrofibramatoza but large age spots, as well as a large number of neurofibromas in the palms.
Neurofibromatosis type III is characterized by multiple cutaneous neurofibromas, which may cause an optic nerve glioma, meningioma and neyrolemmu.
Neurofibromatosis type IV (segmental) affects only one particular area of the skin.
Neurofibromatosis type V is characterized by the complete absence of neurofibromas, there are only dark spots.
Neurofibromatosis type VI is characterized by its late manifestation (in the form of appearances neurofibromas) after the age of 20 years, and is most often purchased.
The symptoms of neurofibromatosis
By itself, the disease neurofibromatosis has no clear symptoms, and its manifestation in each patient - individually. There are plexiform neuromuscular optical glioma or acoustic neuroma. But most of all there is malignant transformation of neuromuscular nerve, which results in neyrofibrosorkoma.
Causes of neurofibromatosis may cause the appearance of mental abnormalities, but serious mental illness causes. This is due to the resulting pressure on the nervous system tumors. There are neurofibromatosis children against the background of macrocephaly (increased brain, occurring with a lag of mental development), which develop into epilepsy. These sick children also are at risk of developing leukemia.
External symptoms of neurofibromatosis (in the form of lumps, spots, etc.) look very unpleasant and ill quite difficult to adapt to society, to get in touch with others.
Treatment of neurofibromatosis
Radical methods of therapy for this disease does not exist, so the treatment of neurofibromatosis is symptomatic.
Specialists prescribe drugs that contribute to the normalization of (at least partial) metabolic disorders. The course of treatment and specific method - completely individual, and depend on the results of surveys not only physician-geneticist, and orthopedics, neurology, oncology, ophthalmology, etc.
There are cases of tumor development, which provokes the emergence of other diseases and has an increased risk for the patient. Therefore, treatment in such cases neyrofibromotoza performed several surgical operations. Depending on the location of the tumor may be applied gamma knife.
If a person is suffering from neurofibromatosis, it begins to stall, then carry out an operation to decompress tumors in the area of vestibular nerve-snail.
As a preventive disease neurofibromatosis recommend carrying out medical and genetic counseling.