Neurofibromatosis (NF)

Neurofibromatosis (NF)

Neurofibromatosis is a group of diseases that have the same clinical manifestations but are caused by different genetic disorders. This pathology is characterized by the appearance on the skin of benign and malignant formations affecting the peripheral and central nervous system. Two main types of the disease are distinguished:

  • Neurofibromatosis of the first type. The disease is inherited in an autosomal dominant manner, and it is equally common in both sexes. The main clinical manifestations of this type of the disease are bone abnormalities, hyperpigmentation of the skin, the occurrence of formations.
  • Neurofibromatosis of the second type. This form is much less common, and its aetiology is different from the first type. The disease is manifested by the occurrence of neurofibromas, gliomas, meningiomas and other tumours.

Symptoms 

One of the main features of neurofibromatosis is that the symptoms in each case are individual. Symptoms largely depend not only on the type of disease but also on the individual characteristics of the body. In addition to the symptoms that have already been listed above, the following can also occur loss of vision, hearing loss, disorders of other systems and organs.

Diagnostics

If neurofibromatosis is suspected, only a comprehensive examination is required, which will confirm the preliminary diagnosis and get all the necessary information about the pathology. The following diagnostic methods may be prescribed to the patient: 

  • Computed tomography and magnetic resonance imaging;
  • A biopsy followed by laboratory examination of tissue samples obtained;
  • Blood test;
  • Ultrasound diagnostics.

These are the main methods of instrumental diagnostics. But other methods may be used at the discretion of the attending physician.

Treatment

Despite the fact that neurofibromatosis is considered an incurable disease, the doctors of the Israeli clinic Tel Aviv Medical Clinic have achieved great success in the treatment of this disease. The main method of treatment is the elimination and prevention of all manifestations of the disease. For this, the most effective and modern treatment methods are used: stereotactic radiosurgery, surgical intervention, chemotherapy and others.

The treatment regimen is selected individually, taking into account many factors: the form and severity of the disease, the duration of the disease, clinical manifestations, age and general health of the patient.