Neurofibromatosis and Neurofibromatosis Clinic
What is Neurofibromatosis?How is the Diagnosis of Neurofibromatosis Made?
How Does Someone Get Neurofibromatosis?
Can Neurofibromatosis Be Discovered Through Gene Testing?
Where Can My Child Be Seen by Doctors Who Know About Neurofibromatosis?
What is Neurofibromatosis?
Neurofibromatosis (NF) is among the most common genetic conditions and can affect anyone, regardless of family history, age, race, gender or ethnic background. There are two types of NF—type 1 (NF1) and type 2 (NF2).
NF1 affects approximately one out of every 3,000 people. NF2 affects one out of every 35,000 people. Both forms are characterized by the growth of benign tumors called neurofibromas. These tumors can grow anywhere in the body where there are nerve cells. This includes nerves just under the surface of the skin, as well as nerves deeper within the body, spinal cord and/or brain.
In NF1, neurofibromas most commonly grow on the skin or on the nerves to the eyes. A tumor that grows on one of the nerves to the eyes is called an optic glioma. If it grows large enough, it can cause problems with vision and even blindness.
In NF2, neurofibromas most commonly grow within the spinal cord or brain. Specifically, the tumors are found on the nerves to the ear and can involve the branches that help hearing or balance. These so-called acoustic neuromas, if large enough, can lead to deafness or invade other parts of the base of the brain.
How is the Diagnosis of Neurofibromatosis Made?
To be diagnosed with NF1, a person must have at least two of the symptoms that can be associated with this disease. These include:
- Spots on the skin, called café-au-lait spots
- Tumors of the nerves in the skin
- Tumors of the nerves that go to the eyes and bring visual information to the brain
- Certain characteristic abnormalities seen on an magnetic resonance imaging (MRI) scan of the brain
Individuals with NF2 have fewer outward signs of the condition than individuals with NF1. This form of the disease is often manifested by tumors of the covering around the nerves that bring information to the brain from both ears, certain kinds of tumors of the brain itself or particular kinds of cataracts in the eyes.
How Does Someone Get Neurofibromatosis?
NF is caused by a change in genetic material or genes. NF1 is caused by a change in a gene carried on chromosome 17. NF2 is caused by a change in a gene carried on chromosome 22. The changes in the genetic material that cause NF1 and NF2 can be inherited from a parent. This is referred to as autosomal dominant inheritance. NF also can occur spontaneously at conception. The NF gene is always present at birth, though symptoms may not appear until later in life.Can Neurofibromatosis Be Discovered Through Gene Testing?
Recently, direct gene testing has become available so patients’ blood can be tested without obtaining blood samples from other relatives. However, direct gene testing is not 100 percent accurate. Further research is necessary to make the testing for both NF1 and NF2 more accurate. Individuals who want more information about direct gene testing should consult a geneticist.Where Can My Child Be Seen by Doctors Who Know About Neurofibromatosis?
Children’s Hospital of Pittsburgh of UPMC has a Neurofibromatosis Clinic that includes doctors from Neurology, Genetics, Ophthalmology, Neurosurgery and other related specialties. To schedule an appointment for your child, call 412-692-5520 and press 1 any time during the recorded message.For more information, contact the Neurofibromatosis Clinics Association, PO
Box 14185, Pittsburgh, PA 15239; phone: 412-795-3029; fax: 412-795-3098; e-mail:
info@nfpittsburgh.org.
