Neurofibromatosis

Your doctor will start with a review of your personal and family medical history and a physical examination.

Your doctor will check your skin for cafe au lait spots, which can help diagnose NF1.

If additional tests are needed to diagnose NF1, NF2 or schwannomatosis, your doctor might recommend:

Eye exam. An eye doctor can detect Lisch nodules, cataracts and visual loss.

Hearing and balance exams. A test that measures hearing (audiometry), a test that uses electrodes to record your eye movements (electronystagmography) and a test that measures the electrical messages that carry sound from the inner ear to the brain (brainstem auditory evoked response) can help assess hearing and balance problems in people who have NF2.

Imaging tests. X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.

Genetic tests. Tests to identify NF1 and NF2 are available and can be done in pregnancy before a baby is born. Ask your doctor about genetic counseling. Genetic tests won't always identify schwannomatosis because other, unknown genes may be involved with the disorder. However, some women choose genetic testing for SMARCB1 and LZTR1 before having children.

There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

Monitoring

If your child has NF1, your doctor is likely to recommend yearly age-appropriate checkups to:

Assess your child's skin for new neurofibromas or changes in existing ones

Check for signs of high blood pressure

Evaluate your child's growth and development — including height, weight and head circumference — according to growth charts available for children who have NF1

Check for signs of early puberty

Evaluate your child for any skeletal changes and abnormalities

Assess your child's learning development and progress in school

Obtain a complete eye examination

Contact your doctor promptly if you notice any changes in signs or symptoms between visits. Many complications of NF1 can be treated effectively if therapy starts early.

Medication

Selumetinib (Koselugo) is a treatment for plexiform neurofibroma in children. Clinical trials of similar drugs are currently ongoing for children and adults.

Surgery and other procedures

Your doctor might recommend surgery or other procedures to treat severe symptoms or complications of neurofibromatosis.

Surgery to remove tumors. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. If you have NF2 and have experienced hearing loss, brainstem compression or tumor growth, your doctor might recommend surgery to remove acoustic neuromas that are causing you problems. Complete removal of schwannomas in people with schwannomatosis can ease pain substantially.

Stereotactic radiosurgery. This procedure delivers radiation precisely to your tumor and doesn't require an incision. Stereotactic radiosurgery might be an option to remove acoustic neuromas if you have NF2. Stereotactic radiosurgery can help preserve your hearing.

Auditory brainstem implants and cochlear implants. These devices might help improve your hearing if you have NF2 and hearing loss.

Cancer treatment

Malignant tumors and other cancers associated with neurofibromatosis are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors contributing to a good outcome.