Causes of the symptoms , the treatment of neurofibromatosis disease


1. reasons for neurofibromatosis

2. symptoms of neurofibromatosis

3. types of neurofibromatosis

4. treatment of neurofibromatosis

Neurofibromatosis - a hereditary disease,which is characterized by a significant loss of skin surface pigment spots and neurofibromas.neurofibromatosis disease is often accompanied by neurological, mental and hormonal disorders, it affects many tissues and organs.Most - skin, subcutaneous tissue, nerve tissue, at least - the bones and glands of internal secretion.The disease is hereditary and can occur for 3-5 generations, it is accompanied by malformations, learning difficulties, spinal curvature, visual and hearing impairment.Children neurofibromatosis appears early with frequency 1 in 3,000 infants regardless of gender.

reasons for neurofibromatosis

origin of the disease neurofibromatosis has not been studied until the end.It is difficult to attribute to a particular section of medicine or apply adequate methods of prevention.Because ne

urofibromatosis impaired melanocyte function, resulting in the patient's body covers a multitude of age spots, color spots, subcutaneous bumps and so on.

Today we know that the disease is inherited and can affect all kinds of nerve cells.If the damaged gene, there is only one parent, the child may be ill with a probability of 50%, while the severity of the symptoms will depend on the degree of gene expression.Sometimes the cause of neurofibromatosis becomes spontaneous mutation.

symptoms of neurofibromatosis

spots and tumors on the skin - a typical, but not the only sign of the disease neurofibromatosis.The illness may have symptoms of the various organs and systems.

- the part of the skin.Typical spots "coffee with milk" color - the first sign of the disease, a noticeable at birth or manifesting in the first years of life.But at the same time with them on the skin may appear and neurofibroma, neurofibromatosis by which the disease got its name.Tumors appear after puberty and amplified during pregnancy and childbirth, in rare cases reborn in malignant.Another characteristic manifestation of the disease neurofibromatosis - plexiform neurofibromas.This tumor, which may result in a cosmetic deformity and occasionally degenerate into malignant.

- From the nervous system.Affecting the nervous tissue disease causes learning difficulties in 40-60% of newborns.Neurofibromatosis in children often leads to behavior disorders, hyperactivity, in 5% of cases - to early mental retardation.Children under 6 years of the disease can cause swelling of the optic nerve and the subsequent her visual impairment, increase cerebral pressure.

- the part of the cardiovascular system.Because neurofibromatosis can develop significant narrowing of the blood vessels - stenosis.Especially dangerous renal artery stenosis and cerebral blood vessels.

- From the side view.Change pigmentation characteristic of the disease neurofibromatosis, and can affect the iris.It is noticeable to the naked eye brown spots characteristic color "coffee with milk".By themselves, they risk to the patient is not present, but the signal of a serious illness, which can cause visual impairment in the future.

- the part of the musculoskeletal system.In rare cases, neurofibromatosis in children can manifest in the ankles or other deformation of bones.Changes occur during fetal life and are visible at birth.At puberty, the carriers of the disease severe curvature of the spine may develop.

- part of the endocrine system.Not receiving timely treatment, neurofibromatosis is able to trigger early puberty, thyroid cancer, adrenal glands and other organs of internal secretion.

types of neurofibromatosis

There are seven types of disease, each of which has its own characteristic manifestation:

- I type.The most common form of neurofibromatosis in children, which is characterized by the appearance of multiple neurofibromas and age spots "coffee with milk" color, as well as spots like freckles in the groin and armpits.

- II type.It is characterized by the appearance of neuromas - moving, dense and painful tumors, while the spots and neurofibromas occur in only a small percentage of patients, or may be absent altogether.The characteristic symptom of neurofibromatosis type II - bilateral acoustic neuroma, which leads to hearing loss in adult age.

- III type.Mixed neurofibromatosis, children are not revealed, development of the disease occurs between the ages of 20-30 years and is accompanied by the rapid growth of tumors in the central nervous system.For this type of the disease is characterized by the appearance of neurofibromas on the palms.

- IV type.the patient's skin is covered with a scattering of neurofibromas, but beyond that there is a high risk of optic nerve glioma, meningioma or neurolemmoma.

- V type.neurofibromatosis disease can affect the skin one segment or part of it - on the body appear the spots and neurofibromas, outwardly similar to hemihypertrophy (increase of the body, causing a noticeable asymmetry).

- VI type.Only its manifestation - skin pigmentation.

- VII type.The disease occurs after 20 years of age and is characterized by the appearance of only neurofibromas.

treatment of neurofibromatosis

Since the causes of neurofibromatosis are not fully understood, but nowadays the disease is not a radical treatment, or absolutely reliable and efficient methods of prevention.In families where there were cases of the disease, when planning pregnancy appointed genetic consultation.

treatment of neurofibromatosis passes through medication under the supervision of several doctors: geneticist, neurologist, ophthalmologist, dermatologist, and infectious diseases.Experts are struggling with the symptoms of the disease.When hearing loss treatment includes surgery of neurofibromatosis tumors decompression in the vestibulocochlear nerve.Patients received medications to normalize metabolic processes.If necessary the number of surgeries - one directed to the removal of tumors, others - to eliminate cosmetic defects.

Modern treatment of neurofibromatosis allows alleviate symptoms, eliminate the nodules on the skin without scarring, as well as to stabilize the condition of the body.After surgery the patient needs a special diet, as well as maintenance therapy, which will prolong remission for several decades.


This article is available exclusively in the educational purposes and is not research material or professional medical advice.

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