Neurofibromatosis (Recklinghausen's disease or) refers to a specific 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.This disease affects many organs and even entire systems.Possible defects of the skin of the nervous system, eyes, internal organs, etc.Thus, neurofibromatosis - phakomatoses this significant lesions of the skin surface.
Externally it is a lot of spots on the skin color of coffee and milk, neurofibromas and pigmented iris hamartomas (nodules Bream).
diagnosis and appropriate treatment of neurofibromatosis is difficult because this pathology is not fully explored.Doctors can not carry the disease to any one branch of medicine because it affected a number of bodies, and developing all kinds of tumors on the skin.It must be said that their appearance, too, has no clear medical ex
We can say that the neurofibromatosis in 50% of cases - a disease genetically inherited, that affects all the cells of the neural crest, without exception: Schwann cells, lemmotsity, melanocytes and endoneural fibroblasts.
As a result of their reproductive cells formed a tumor cell in the body.neurofibromatosis disease is the cause of dysfunction of melanocytes, leading to the appearance of wanton age spots and other pigmentation disorders in.
tumor may appear in the form of subcutaneous lumps, colored spots, may also cause problems with the skeleton may impact on the base of the spinal nerves and the appearance of other neurological problems.
Neurofibromatosis implies that even when inheriting just one copy of the defective gene, the disease will still progress.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 the known cases is the result of a spontaneous mutation, ie,heredity was not a decisive factor.You can not tell who is sick with the disease more often, men or women, the statistics - is the same.
Neurofibromatosis in children is often a congenital form, asacquired cases of the disease occur at an older age.
Types There are six types of the studied forms of neurofibromatosis:
major (classic) the first type is the disease known as "Von Recklinghausen disease."This is - 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 - are less visible, and the main symptoms - is a manifestation of acoustic neuroma and signs that indicate inflammation neuromas in the brain or spine.At the age of 20-30 years may develop tumors in the central nervous system.For this type of disease neyrofibramatoza characterized by pale, but large pigmented 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 neurolemmoma.
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.
itself neurofibromatosis disease has no clear symptoms, and its manifestation in each patient - individually.There are plexiform neuromuscular, optic glioma or acoustic neuroma.But often there is a malignant transformation of the neuromuscular nerve, which results in a neyrofibrosorkoma.
Causes Neurofibromatosis can cause the appearance of mental abnormalities, but serious mental illness causes.This is due to the resulting pressure on the nervous system tumors.Chance of neurofibromatosis in children on the background of macrocephaly (increased brain, occurring with a delay of mental development), which develop into epilepsy.These sick children also are at risk of leukemia development.
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.
Radical therapies in this disease does not exist, so the treatment of neurofibromatosis is symptomatic.
specialists prescribe drugs that contribute to the normalization of (at least partial) of disturbed metabolism.The course of treatment and specific method - completely individual, and depend on the survey results not only physician-geneticist, and an orthopedist, neurologist, oncologist, ophthalmologist, etc.
known cases of tumor development, which provokes the emergence of other diseases and has an increased risk to the patient.Therefore, the treatment in such cases neyrofibromotoza performed several surgical operations.Depending on the location of the tumor, the gamma knife can be used.
If a person suffering from neurofibromatosis, begins to stall, then carry out an operation to decompress tumors in the area of snail-vestibular nerve.
For neurofibromatosis disease prevention recommend carrying out medical and genetic counseling.
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