Neurofibromatosis type 2 (NF2) is a genetic condition caused by a mutation of the NF2 gene predisposing to benign tumor development in the brain, spinal cord and peripheral nerves. The types of tumors frequently associated with NF2 include:
In adults, the most common features of NF2 occur due to the development of vestibular schwannomas, including:
Schwannomatosis is a form of NF that has been recognized only recently, characterized by multiple schwannomas on nerves throughout the body that can cause intense pain. Individuals with schwannomatosis do not usually develop vestibular schwannomas or other tumor types typically associated with NF2.
Nervous system tumors in NF2 and schwannomatosis are usually slow-growing, but patients should be evaluated at least annually to monitor tumor characteristics and neurologic function. The optimal and recommended approach involves evaluation by a multidisciplinary team of specialists who can provide a diverse and expanded-level of expertise on these conditions.
Treatment - The management of neurofibromas depends upon the symptoms. They do not typically need to be surgically removed. Surgical exploration and excision may be required under the following circumstances: type of diagnosis, pain, cosmetic considerations, progressive neurological complications, compression of adjacent tissues and suspicion of a malignant tumor. Painful neurofibromas occur just under the skin. These globular lesions may occur in the hand or other surfaces that are subject to pressure. Typically these lesions involve small bundles of superficial nerves and can be removed without creating a meaningful neurological deficit.
The UCLA NF2 offers a comprehensive multidisciplinary approach for NF2 and schwannomatosis patients.
The core team includes neuro-oncologists, neurosurgeons, and neuro-otologists. The team convenes a panel of experts to design an individualized patient and family-centered plan of care to meet each patient's unique medical needs. The UCLA NF2 Clinic is one of the few in the country that sees both adults and children. As part of UCLA Health, the NF2 clinic provides access to state-of-the-art imaging and surgical facilities as well as world renowned experts in "bench to bedside" NF research and clinical trials.
Probably the most common benign peripheral nerve tumor, neurofibroma is a tumor of the nerve fiber. On occasion a solitary neurofibroma occurs, but more frequently they occur as part of neurofibromatosis. Neurofibromatosis is a genetic disorder that may be associated with multiple neurofibromas. The disease is transmitted by an autosomal dominant mutant gene. There are two types of neurofibromatosis.
Symptoms - The spectrum of lesions in von Recklinghausen's disease varies widely. For example, the neurofibromas may involve small skin nerves and appear as small bumps, or they may be confined to large nerves and produce elephantiasis, or enlargement of affected body parts.
Neurofibromatosis type 1: The diagnosis requires two or more of the following:
Neurofibromatosis type 2: The diagnosis requires either of the following: