The term neurofibromatosis refers to a small group of genetic disorders that lead to tumor growth within the central nervous system. These tumors are generally benign (non-cancerous, in other words) although in rare cases the tumors can lead to cancer. A person can develop neurofibromatosis in one of two ways: It can be inherited from one's parents, or it can develop from a genetic mutation. Any person with neurofibromatosis can genetically pass it along to succeeding generations, regardless of how they developed the disease.
Currently there is no cure for neurofibromatosis.
There are three identified types of neurofibromatosis: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and a third type known as schwannomatosis.
Neurofibromatosis type 1 (NF1)
NF1 is the most common type of neurofibromatosis, and it typically begins at birth. It can lead to several visible changes in the skin: light brown spots called café au lait spots, freckles in the groin area or in the armpits, and neurofibromas, which appear as bumps beneath the skin that grow on nerve tissues.
NF1 may also present as harmless little bumps on the iris of the eye, known as Lisch nodules. Bone deformities may also develop, such as scoliosis, as a result of NF1, and often children with NF1 are noticeably shorter than their peers. Additionally, NF1 can sometimes lead to some form of mild cognitive impairment in children.
Neurofibromatosis type 2 (NF2)
NF2 is less common than NF1 and tends to develop when a person reaches their teenage years. It commonly leads to hearing impairment because the benign tumors develop on the nerves that help the brain interpret sound and balance. Consequently, NF2 is often suspected in teens when they begin to suffer from ringing in the ears, have balance problems, or begin to suffer from hearing loss. Rarely, NF2 can lead to tumors on other nerves, including the optic nerves and peripheral nerves, causing peripheral neuropathy or visual problems such as cataracts.
Schwannomatosis
The last type of neurofibromatosis is also the rarest type. Schwannomatosis tends to strike people in their 20s or early 30s. In these cases, tumors known as schwannomas develop on nerves in the cranium, spine and periphery. The primary symptom of schwannomatosis is the pain caused by these developing tumors on the related nerves.
Neurofibromatosis treatment and prognosis
The most common form of treatment for all types of neurofibromatosis is surgery to remove the tumors causing the symptoms. Again, this does not constitute a cure; rather, it is a means of reducing and controlling the symptoms of the disease. To this end, radiotherapy and sometimes chemotherapy can be effective in achieving these results as well, but only in NF1.
Prognosis varies greatly, not only among the three types of neurofibromatosis, but also within each type. For some, NF1 causes few if any major issues while for others it can be a severely problematic disease. The same is true for NF2, although depending on the nerves hit by the disease, neurofibromatosis can be life-threatening. Finally, the chronic pain caused by schwannomatosis can be debilitating if not properly controlled.
photo of "Just Ask!" neurofibromatosis shirt by Reggie Gibbs
Sources
National Institute of Neurological Disorders and Stroke, Neurofibromatosis information page
Mayo Clinic, Neurofibromatosis
MedlinePlus, Neurofibromatosis
