Neurofibromatosis (neurofibromatosis) is an incurable genetic disease included in the group of phacomatoses. The symptoms of neurofibromatosis are varied, but the most prominent are multiple tumors and nodules. What are the causes of neurofibromatosis? What symptoms accompany it? And is it possible to effectively treat neurofibromatosis?

Neurofibromatosis( neurofibromatosis ) is the most commongenetic diseasefrom the group of phacomatosis around 30. Doctors distinguish two types of neurofibromatosis. Neurofibromatosis is a congenital syndrome of dermatological and nervous diseases. The disease is inherited in an autosomal dominant fashion, although it can also appear as a result of a new mutation.

Neurofibromatosis: types

There are two types of neurofibromatosis:

  • type 1 - that isRecklinghausen disease(NF-1) - the disease gene is located in the 17th chromosome, the changes mainly affect the skin and the nervous system and that is why they are referred to as skin- nervous, occurs with a frequency of 1: 3000 births
  • type 2 - neurofibromatosis type 2 (NF-2), which is characterized by the presence of bilateral acoustic neuromas with progressive hearing loss, tinnitus, facial nerve palsy, imbalance and headaches. The disease gene is located on chromosome 22. In the case of the presence of NF-2 in one of the parents, the risk of developing the disease in the offspring occurs in approx. 50%. cases - occurs with a frequency of once in 400 thousand births

Neurofibromatosis: symptoms

The typical clinical symptoms for type 1 neurofibromatosis are primarily skin lesions, the so-called "Coffee with milk", with a diameter of a few to several millimeters. It is assumed that in type NF-1 the number of spots is greater than six and their diameter is not less than 15 mm. Other symptoms include numerous freckled patches usually found in adolescence and mainly in the armpits and groin, bluish nodules under the skin, and optic gliomas, which cause visual impairment. Other symptoms include:

  • Lisha nodules covering the retina of the eye
  • bone deformities and dysplasias, orthopedic complications
  • epilepsy
  • mental retardation

In the case of the NF-2 type, the above-mentioned symptoms also include eye changes (cataracts, retinal pigment changes).

Neurofibromatosis: diagnosis

The diagnosis of NF-1 neurofibromatosis is made on the basis of typical clinical symptoms, radiographs and the presence of the disease in the family. We perform ophthalmological and audiological examinations, computed tomography, MRI of the brain and spine, and psychological tests. NF-2 is diagnosed with axial computed tomography and MRI, which may reveal intracranial neoplastic changes and tumors of the spinal canal. A detailed examination of the auditory potentials and an audiogram may also be helpful, thanks to which you can assess the degree and location of damage to the auditory tract.

Treatment of neurofibromatosis

Neurofibromatosis is an incurable disease. So it is treated symptomatically. Large skin lesions that cause pressure or restrict movement are surgically removed. The finding of neoplastic changes in the brain or spine requires neurosurgical treatment. People who experience epileptic seizures require appropriate pharmacological treatment.

Category:

Genetic diseases