Neurofibromatosis is a genetic disorder that will cause nervous system tumors. Surgery is the best treatment option given and the prognosis ranges from normal lives to life-threatening debilitation, depending on damage to other structures in the body.
What Neurofibromatosis Is
The tumors start in the nerve and myelin sheath supporting cells. The myelin sheath is a thin membrane that protects nerves. These tumors grow on the nerves and can show abnormalities like bone deformities and skin changes. New cases of neurofibromatosis may come from mutations in someone’s genes that was brought on spontaneously.
Neurofibromatosis Type 1
Neurofibromatosis type 1, or NF1, is the most common type. The doctor will look for changes in skin and bone, and look for tumors. They will also take a detailed history to see if any parent or sibling had NF1. Symptoms include skin light brown spots, tumor on optic nerve, abnormal spine development, larger than normal head circumference, and growths on the eye’s iris.
Neurofibromatosis Type 2
NF2 is less common in diagnosis. It has eighth cranial nerve tumors that grow slowly, causing pressure damage. Symptoms other than these tumors include cataracts at a young age, nervous system tumors, history of a parent or sibling having these symptoms, and changes in the eye’s retina.
Schwannomatosis
Once thought of as a variant to type 2, it is now a separate type completely. This is development of tumors everywhere but the 8th cranial nerve. These tumors are called schwannomas. Symptom is pain, numbness, tingling, and weakness in the toes and fingers.
Treatment of Neurofibromatosis
Treatment is typically surgical removal of the tumors. If the tumors are cancerous there will also be radiation and chemotherapy as a therapy option. Pain is usually lessened when the tumors are removed.
Prognosis
NF1 is mild in most cases and can have patients leading normal lives. There are a few NF1 cases where it is debilitating. NF2 varies greatly and can range from severe, disabling, and life threatening.
Source: National Institute of Neurological Disorders and Stroke