Neurofibromatosis is a genetic disorder of the nervous system. It causes tumors to grow on nerves and produces other abnormalities such as skin changes and bone deformities.
Neurofibromatosis has been divided into 2 types:
Neurofibromatosis 1 (NF1), the more common type, is characterized by more than 5 brown skin spots sometimes referred to as café-au-lait spots. People without NF can have a few of these spots. Other NF1 symptoms include:
- Freckling in the armpits or groin areas
- 2 or more neurofibromas (tumors that grow on a nerve or nerve tissue under the skin)
- Mental impairment
- Benign growths on the iris, called iris nevi
- A tumor on the optic nerve
- Severe scoliosis
- Enlargement or deformation of certain bones
Neurofibromatosis 2 (NF2) is much less common than NF1 and is characterized by multiple tumors on the cranial and spinal nerves. Tumors that affect both of the auditory nerves and hearing loss beginning in the teens or early 20s are generally the first symptom of NF2.
Other symptoms of NF2 include:
- Facial pain or numbness
- Ringing ears
- Swelling under the skin
- An unsteady gate
A physical examination will reveal any skin spots or growths under the skin. Further examination could include testing hearing damage, as well as bone changes. Testing could include X-rays, MRI and biopsies of the skin lesions. In addition, a direct gene test can be done for NF2.
Wake Forest Baptist’s multidisciplinary approach to the treatment of neurofibromatosis is aimed at the symptoms and at controlling or removing any tumors that are causing problems.
Other treatments for helping hearing or eyesight may be necessary.
We are actively involved in neurofibromatosis research on methods to non-invasively treat the tumors and to preserve hearing using advanced stereotactic radiosurgery and other techniques.