What is Neurofibromatosis?

Neurofibromatosis (NF) is a genetic disease of the nervous system in which causes tumors to grow on nerve tissue. These tumors may or not be harmless, but, when they compress other nerves or tissue they may cause serious damage. These tumors may cause hyperpigmentation, excess pressure on spinal nerves and other neurological situations.

Neurofibromatosis is generically inherited; it is passed by parents to their children. Only one parent needs to have the disorder to give it to their children. Neurofibromatosis cannot be prevented, but families with history of this disease may receive genetic testing to determine the risk of transmitting this disorder to their children. Fifty percent of those suffering from NF have a family history of this disease and the rest are a result form spontaneous genetic mutation.

Types and symptoms of neurofibromatosis

NF is categorized in three types. They are caused by different genes and chromosomes.

NF1 - (also known as von Recklinghausen NF is the most common and is referred to as peripheral NF) causes skin changes and deformed bones; this type of neurofibromatosis usually starts at birth. The presence of "cafe au lait" spots may be found on infants. During adolescence, benign tumors may occur on the skin. In up to 5% of these cases the tumors will become malignant. Other symptoms may include scoliosis, dizziness, hearing loss and learning disabilities. About half of the children have macrocephaly (large head size) which is usually due to increased brain size, but the cause of this is yet unknown.

NF2 - (referred as central NF) often begins in the teen years and early adulthood. Tumors frequently form on the Vestibulocochlear nerve (eighth cranial nerve) which may cause dizziness, tinnitus, loss of balance and significant hearing loss. Skin lesions don't always appear with this type of neurofibromatosis.

Schwannomatosis - Schwannomatosis causes chronic pain and is the rarest type. While the pain can occur any place in the body, usually only once part is affected.

There seems to be no distinction of patient status; the same incidence for the disease remains, approximately 1 out of 300 births, occurs regardless of nationality, race or sex.

Treatment for neurofibromatosis

The effects of this disease are not predictable; they may produce different manifestations and severity depending on the patient. Although the genes for both NF-1 and 2 have been identified there is no known cure for neurofibromatosis. Treatment is aimed at relieving the symptoms. Cutaneous and subcutaneous tumors may be removed by surgery. Schwannomatosis and nerve tissue tumors which may be the cause of pain and loss of function may also be surgically removed. In type 2 NF, microsurgery may an option to remove Vestibulocochlear nerve tumors. Radiation may also be used to reduce the size of the tumors.

Conclusion

The American Academy of Pediatrics Committee on Genetics recommends monitoring children with NF-1 to look for any signs of malignant transformation. There are many clinical trials being done to find more about this disease. There are more than forty clinical trials active at the moment according to the US National Institutes of Health.

Most people who have neurofibromatosis can live a normal and productive life; however, patients who have NF-1 could suffer from self-image or psychological problems if they have large amounts of hyperpigmentation or other cosmetic conditions. Those suffering with NF-2 could have life threatening symptoms if the damage is close to vital organs and structures. Individuals with Schwannomatosis may have bearable pain but in some cases it may be very severe thus leading to an unproductive lifestyle.

Sources:

Neurologychannel.com

Wikipedia.org

Ninds.nih.gov

Emedicine.medscape.com

Hopkinsmedicine.org

Rare diseases

Clinical trials