Neurofibromatosis

by Kyra Holzmacher

Basic Information

Neurofibromatosis affects the skin and the nervous system. There are three types of Neurofibromatosis, or NF. They are simply referred to as Neurofibromatosis Type 1, or NF1, Neurofibromatosis Type 2, or NF2, and Schwannomatosis. Each of these subcategories is caused by a mutation in different genes on separate chromosomes, thus dividing the groups. Neurofibromatosis is an autosomal dominant mutation. NF1 is caused by a gene on chromosome 17 that is responsible for the production of the protein neurofibromin. This protein controls cell growth. A gene on chromosome 22 causes Neurofibromatosis Type 2. This gene codes merlin, another protein that controls cell growth. At least two genes are known to be responsible for Schwannomatosis. One of those genes has been identified as INI1. As of now, the second gene is unknown, and there may be more that can cause Schwannomatosis.

Diagnosis and Symptoms

While a person with Neurofibromatosis can have children and be tested while pregnant to see if the child will have it as well, NF isn't only inherited. Neurofibromatosis can also be a fresh mutation that occurs randomly in a fetus. In NF1 symptoms appear early in life sometimes even at birth. NF2 manifest later, in adulthood. The symptoms of NF1 include spots on the skin and eye, bone deformities, and learning disabilities. Neurofibromatosis Type 2 symptoms are weakness, head and body pain, and balance and vision problems. Schwannomatosis causes numb and weak parts of the body and a reduction in muscle. Neurofibromas, a type of tumor, form due to some types of Neurofibromatosis. They form on the spine and advance through the body. Usually, a neurofibromas must be removed surgically.

Treatment

Neurofibromatosis is not preventable, but certain symptoms caused by NF can be prevented if caught early enough. Regular check ups are needed for all people with any type of NF to ensure symptoms do not worsen. They will need surgery if any tumors develop, and depending on the type of NF, the symptoms may grow as they age. As of now, there is no cure for any of the subcategories of NF.

Living with NF

A child with NF must constantly be examined and that won’t change as they get older. Children that have NF will probably require multiple surgeries throughout their lifetime. Since NF2 and its symptoms develop later, people with that probably won’t start needing treatment until they are about in their 20’s.

Statistics

NF1 occurs in about 1 in 3,500 people. NF2 is less common, being approximately 1 in 37,500 people. Schwannomatosis happens in 1 in 40,000. Schwannomatosis is the rarest of the three types. NF1 is the most common condition resulting from a mutation in one gene, and if one parent has it, there is a 50% chance the child will have NF.

New Treatments

Scientists and doctors have studied NF1 and NF2 much more than they have had a chance to learn about Schwannomatosis. We still do not know all the factors that cause Schwannomatosis, and there are many developments yet to be explored. For example, new developments in laser technology allowed a new option for the removal of a neurofibromas.