Food & Health

Neurofibromatosis: What It Is, Symptoms, Types & Treatment

It is a rare disease to have more than one neurofibromatosis in any human body. In this disease, there are numerous lesions all over the body.  Doctors say that this disease is caused by infection, and there is no cure. At what age does this disease occur? Can blisters spread all over the body disappear? What are the symptoms of this disease? How do we diagnose it? Let’s find answers to all these questions in this article. 

Are these blisters or tumors dangerous? 

Neurofibromatosis is also called von Recklinghausen’s or neurofibroma. It is a genetic disease related to the nervous system. According to the Mayo Clinic website, these nerve cell cysts or tumors are caused by genetic defects. The Mayo Clinic is a London-based organization that provides services in the fields of medical treatment and research. According to this website, this abscess or tumor can form anywhere in the nervous system. 

Also, in the brain, spinal cord and nerves. The genetic defects that cause neurofibromatosis can be inherited from parents or can occur during pregnancy. If one of the parents is affected by this disease, their children are also likely to be affected. About half of those who develop the disease inherit it from their parents. Doctors say that these blisters are neither dangerous nor life-threatening. Also, it is not a contagious disease. This disease, called neurofibromatosis, primarily affects the growth of nerve cells. 

There are three types of neurofibromas.

Based on the specific changes (mutations) in particular genes, the disease is divided into NF1, NF2 and Schwannomatosis. Usually, the human body has 46 chromosomes or 23 pairs of chromosomes. These chromosomes are made up of DNA. DNA is made up of genes. A gene called NF1 on chromosome 17 produces a protein called neurofibromin. This protein regulates the growth of cells in the body. However, if there is a mutation in the NF-1 gene, production of the neurofibromin protein stops. 

As a result, the cells in the body become uncontrolled. This is called NF-1 or neurofibromatosis-1 disease. The NF2 gene on chromosome 22 produces a protein called merlin. This protein keeps tumours or tumours in the body under control. But if there is a change in this gene, the production of Merlin protein stops. 

As a result, the cells in the body become uncontrolled. The disease itself is called NF2 or neurofibromatosis type 2 disease. NF-1 affects one in every three thousand children. That is, one in three thousand children has the possibility of getting this disease. While NF2 is rare, it affects one in every 25,000 people worldwide.

Schwannomatosis is a disease caused by mutations in two genes. The disease is caused by specific mutations in two tumor suppressor genes, SMARCB1 and LZTR1. Researchers estimate that 15 percent of parents with schwannomatosis are likely to pass it on to their children, but much is still unclear about this genetic disease. 

At what age can neurofibroma develop?

 Neurofibroma type NF1 usually occurs in childhood. The symptoms of this disease appear soon after the birth of the child. When children reach the age of 10, the symptoms of this disease start to appear. NF2 and schwannomatosis are adult-onset diseases. Tumors or abscesses caused by neurofibromas are not life-threatening. 

These tumors are not usually associated with cancer. But sometimes, they can turn into cancer cells. The Mayo Clinic and WebMD, an American organization that publishes articles on human health and health care, provide information on the symptoms and complications of various neurofibromatosis and its outcomes. 

Is there any cure for this disease?

According to doctors, there is still no cure for neurofibromatosis. Tests and research are being done to find a cure for this disease. However, treatment is now given to relieve pain according to the patient’s symptoms. If the number of these small tumors or lumps on the body is small, they can be surgically removed.

 But they cannot be removed if they are all over the body. People who suffer from this disease can live their everyday lives. It is a genetic disease. Most importantly, it is not a contagious disease. Some types of chemotherapy and radiotherapy are used along with surgery to treat this disease.  

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