Neurofibromatosis – deforming genetic disease. Diagnostics and treatment

Neurofibromatosis (neurofibromatosis) is a genetic disease that distorts the skin of patients and increases the risk of cancer. A mutation in chromosomes 17 or 22 is responsible for the disease. Two types of disease can be distinguished.

What is neurofibromatosis? Characteristics of neurofibromatosis

Neurofibromatosis, or neurofibromatosis, is an incurable genetic disease. It belongs to the diseases from the group of phakomatoses. Depending on the type of disease, the patient’s body undergoes neoplastic skin and nervous changes or neuromas of the auditory nerves. Doctors distinguish two types of disease – neurofibromatosis type 1 and type 2. The first type is attributed to a gene mutation in chromosome 17, and the second type is a mutation in chromosome 22. The disease is inherited autosomal dominantly. Causal treatment has not yet been developed, so patients can only count on symptomatic treatment.

Type 1 neurofibromatosis

Type 1 neurofibromatosis (NF-1) is also called von Recklinghausen disease. The German pathologist, who gave the second name to the disease, described this type of neurofibromatosis in 1882. NF-1 causes a gene mutation on the seventeenth chromosome. This inhibits the synthesis of neurofibromin 1, the protein responsible for the blockade of the RAS oncogene. Neurofibromin 1 deficiency consequently leads to the development of neoplasms in the nervous system. The lesions mainly affect the skin and the nervous system (the so-called skin-nerve lesions). The disease occurs in 1 in 3000 births.

Type 2 neurofibromatosis

Type 2 neurofibromatosis (NF-2) is caused by a gene mutation in chromosome 22. Type 2 neurofibromatosis is characterized by bilateral acoustic neuromas. This type of neurofibromatosis is much rarer, 1 in 200 births. The disease occurs in children of people with NF-000. If one of the parents suffers from neurofibromatosis type 2, then there are approx. 2 percent. the likelihood that the child will inherit the disease.

Symptoms – type 1 neurofibromatosis

The typical symptoms of type 1 neurofibromatosis are numerous skin lesions, including spots of the color of coffee and milk with a diameter of a few to several millimeters. Apart from freckled spots, neurofibromatosis is manifested by headaches, skeletal pain and deformities, epilepsy, abnormal vision, strabismus, hypertension, behavioral and developmental disorders.

Symptoms – type 2 neurofibromatosis

Type 2 neurofibromatosis, as in type 1, is manifested by skin lesions, but these are much rarer compared to the first type of disease. Other symptoms include visual disturbances, retinal pigment changes, lens clouding, and auditory abnormalities, tinnitus, and progressive hearing loss. In the course of NF-2, headaches, paralysis of the facial nerve, and problems with maintaining balance are common.

Diagnostics of neurofibromatosis

We can distinguish two types of disease, neurofibromatosis can be moderate (starts around the age of 25) or severe (starts before the age of 25). The diagnosis of the disease depends on its type. In the case of type 1, the diagnosis of the disease is made by verifying the clinical symptoms. It should be established whether neurofibromatosis has already appeared in the family. In addition, the diagnosis includes a number of tests – ophthalmological, psychological, audiological, computed tomography and magnetic resonance imaging of the brain and spinal cord. Disease can be diagnosed if a patient and a XNUMXst degree relative have at least two of the following criteria:

1. at least 2 Lisch nodules,
2. at least 2 neurofibromas or 1 plexus neurofibroma,
3. at least 6 stains the color of coffee with milk,
4. optic nerve glioma,
5. freckles in the area of ​​the pubic mound, groin, armpits,
6. bone tissue changes – sphenoid bone dysplasia, dysplasia of long bones, thinning of the cortical layer.

In order to diagnose type 2 neurofibromatosis, computed tomography and magnetic resonance imaging are also used. It is also important to determine if the disease is present in a grade 1 relative. An important factor that may indicate the disease is a bilateral tumor of the VIII nerve.

Treatment of neurofibromatosis

Neurofibromatosis is an incurable disease, therefore we can only talk about symptomatic treatment, not causal treatment. Patients with neurofibromatosis struggle with disturbances in the functioning of many organs. For this reason, treatment of the symptoms of the disease should be sought from specific specialists, including at an orthopedist, neurologist, cardiologist, ophthalmologist, endocrinologist, psychologist, psychiatrist or gastroenterologist. Skin lesions that interfere with normal functioning are often surgically removed. Pharmacological treatment is also necessary among patients with epileptic seizures. Neurofibromatosis causes numerous neoplastic changes, therefore chemotherapy and radiotherapy are often used in neurofibromatosis.