Neurofibromatosis

By KT Littell

What is neurofibromatosis?

Neurofibromatosis (NF) is a disorder that causes tumors to grow on certain nerves. There are two different kinds of NF. The first (NF1) causes tumors in the peripheral nervous system and is usually less severe than the second type (NF2). NF2 is usually more severe than NF1 because it affects the central nervous system.

Cause of NF

NF1 is cased by a change of the NF1 gene on chromosome 17. NF2 is

caused by a change of the NF2 gene on chromosome 22. Research also

shows that there may be other genes that could cause this disorder. Also,

the NF is autosomal dominant, meaning that there is a high

probability of inheriting the disorder if a parent or relative has it.

Symptoms of NF Symptoms of NF1 include coffee colored spots

on the skin, nodular or plexiform neurofibromas (both are a type of tumor), blindness, learning disabilities, or pain from nerves that would be affected. Symptoms of NF2 include many of the symptoms of NF1 along with balance problems, cataracts being developed at an early age, and the loss of or changes in hearing and sight.

Treatment for NFBecause NF is a genetic disorder, there are

no real cures, although there are many things that a person who has NF can do to control their symptoms. Tumors caused by NF can be removed and chemotherapy can be used if the tumors become cancerous. With NF2, tumors can become present in nerves near the eyes or ears, making them difficult to remove. Also, some medicines can be taken to lessen nerve pain.

Impact on Daily Living

NF can impact everyone in a different way and symptoms usually vary greatly even in relatives who have it. 60% of people who have NF1 only have café-au-lait (coffee with milk) spots and don’t have any other symptoms. People with NF1 can also have bone abnormalities or learning disabilities, which can cause problems working or at school. With both NF1 and NF2 can cause nerve pain and can stop organs from functioning normally. People with NF2 are more severely impacted since tumors often cause a lot of pain or can cause a person to go deaf or blind.

Did you know…?

Neurofibromatosis is autosomal dominant, so a pedigree for it might look like this.

-NF1 occurs in 1 in 4,000 births, while NF2 occurs in 1 in 50,000 births.-60% of people with NF1 only have a few café-au-lait spots on their skin and/or a few small, harmless tumors. Café-au-lait is French for coffee with milk and it describes the color of the birthmark-like spots.-Even if two people in the same family have NF, their symptoms will usually vary greatly.

Works Cited

http://www.ygyh.org/nf/whatisit.htm

http://www.nlm.nih.gov/medlineplus/neurofibromatosis.html

http://kidshealth.org/parent/general/aches/nf.html#

http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm