Definition and Diagnosis

This is a genetic disorder that causes tumors to occur on nerves throughout the body. The severity of this disease varies greatly between patients. Although this condition is usually inherited, up to one half of patients have spontaneous mutations that were not inherited. Nevertheless, once this disease occurs, it can be passed on to ones children. This condition also affects skin and bone development. About one in twenty patients with neurofibromatosis develop malignant nerve sheath tumors. Neurofibromatosis may be classified as type 1 or type 2.

Type 1

Type 1 is more common and is characterized by caf' au lait (coffee-colored) spots on the skin, multiple skin tumors, as well as multiple neurofibromas and plexiform neurofibromas throughout the body. Although genetic testing is available, it is usually evident on examination when a person has neurofibromatosis type 1.

Type 2

In contrast, patients with neurofibromatosis type 2 usually do not have skin tumors or plexiform neurofibromas. Instead, they have tumors involving the eighth cranial nerve on both sides of the head. They cause progressive hearing loss. Additional schwannomas and neurofibromas may also occur throughout the body. A brain MRI helps confirm the diagnosis of neurofibromatosis type 2.

Treatment Options

Treatment for patients with neurofibromatosis type 1 is usually "symptomatic" (i.e., orthotics, pain prevention, maintenance of a normal quality of life). Tumors are only removed if they are malignant or become progressively symptomatic. Patients with neurofibromatosis type 2 require close monitoring of eight cranial nerve tumors, so that they may be removed when small, thereby minimizing any surgical risks. Hearing loss may occur, therefore preemptively learning sign language is important. Nerve tumors elsewhere in the body (e.g., spine, limbs) are removed when they become symptomatic. Because patients with both types of neurofibromatosis require specialized neurosurgical care throughout their lives, these patients are encouraged to register with a nearby multi-disciplinary neurofibromatosis center (e.g., the NYU Neurofibromatosis Center).

Further Reading

National Institute of Neurological Disorders and Stroke
Neurofibromatosis Information Page