Neurofibromatosis

Good afternoon

Today I want to talk about a disease called neurofibromatosis. This is a rare genetic disease that affects many organs and systems of the body. It is caused by a mutation in the NF-1 gene, which controls the growth and development of nerve cell tissue. Neurofibromatosis is the most common inherited disease and occurs throughout the world. Most patients with this disease have symptoms associated with damage to the skin and mucous membranes, as well as the brain and spinal cord. However, there are forms of neurofibomatosis without visible changes on or under the skin.

Symptoms of this disease include a variety of skin growths, including nodules and plaques, which can appear anywhere on the body regardless of age. In addition, there is increased skin pigmentation, changes in hair color and texture, and



Neurofibromatosis is a chronic genetic disease that is characterized by the formation of skin nodules called neurofibromas and tumors in other parts of the body. Symptoms may include excess hair growth and thin skin. In this article we will talk about what neurofibromatosis is and how it affects a person’s life.

Causes of occurrence All people have a tendency to genetic changes, but pathological mutations do not occur in everyone. Genetic abnormalities allow a person to survive in the environment. However, when certain genes are damaged, changes in biological processes cause severe harm to healthy organs and tissues that are not adapted to infections and other factors. This happens, for example, with cancer. One of the factors causing neurofibromas is chromosomal abnormalities. Normally, a person has two copies of each chromosome: one from the mother and one from the father. If there was a failure during sexual reproduction, then the parents could pass on the so-called defective set of chromosomes to their offspring. Such sets are formed due to the fact that not all chromosomes are duplicated. In the genotype of the parents, there may be one chromosome in excess or deficiency, so at birth children appear with a single copy of an intact gene or with one extra or deficiency