What Is Neurofibromatosis?

Neurofibromatosis is a condition that causes tumors to grow along nerves. This condition can either be genetic or spontaneous mutation. NF (Neurofibromatosis) has been a known condition since 1882, known then as von Recklinghausen Disease. NF is not a condition that can be diagnosed with a simple blood test. As advanced as medicine is today, NF is still being diagnosed with clinical characteristics. The signs and symptoms of this condition vary widely amongst affected people. NF can affect the brain, spinal cord, nerves and skin. Most are familiar with Autism Spectrum Disorder, and in recent clinical studies have identified a strong link between Autism and NF.

Is there any treatment?

Surgery is often recommended to remove the tumors. Some NF1 tumors may become cancerous, and treatment may include surgery, radiation, or chemotherapy. Surgery, radiation, and chemotherapy also may be used to control or reduce the size of optic nerve tumors when vision is threatened. Some bone malformations can be corrected surgically.

For NF2, improved diagnostic technologies, such as MRI, can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option but may result in hearing loss. Surgery also can correct cataracts and retinal abnormalities. There is no currently accepted medical treatment or drug for schwanomatosis, but surgical management is often effective. Pain usually subsides when tumors are removed completely. Genetic testing is available for families with documented cases of NF1 and NF2 but such testing for schwannomatosis currently does not exist.

What is the prognosis?

In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.

What research is being done?

Several years ago, research teams located the exact position of the NF1 gene on chromosome 17. The product of the NF1 gene is a large and complex protein called neurofibromin, which is primarily active in nervous cells as a regulator of cell division.Intensive efforts have let to the identification of the NF2 gene on chromosome 22. The NF2 gene product is a tumor-suppressor protein called Merlin. Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth. Other research is aimed at understanding how the genetic mutations that cause the benign tumors of NF1 also cause nerve cells and nerve networks to form abnormally during fetal development, which later result in the learning disabilities and cognitive deficits of children with the disorder. Additional research is aimed at understanding the natural history of tumors in NF2 and determining possible factors that may regular their growth patterns. The lnter-Institute Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. Using specimens from some of the families, scientists have isolated and sequenced the NF2 gene and have described two different patterns of clinical features in NF2 patients. Investigators are continuing to study these patterns to see if they correspond to specific types of gene mutations.