Neurofibromatosis

Neurofibromatosis Type 1 (NF1) is often diagnosed at birth or early childhood. The first signs may be light brown spots on the skin (called café au lait spots) or freckles in the armpit, or bone deformities. Later issues may include bumps on the iris (the color part of the eye) or under the skin (called neurofibromas), short stature, and tumors on the optic nerve. Children with NF1 may also experience migraines, learning disabilities, attention problems, and seizures.

Neurofibromatosis Type 2 (NF2) is less common and more likely to be diagnosed in early adulthood. Tumors almost always form along the nerves near the brain that are responsible for hearing and balance. These are called acoustic neuromas or vestibular schwannomas, types of skull base tumors that can cause hearing loss, balance problems, and facial weakness or paralysis. Other tumors can form in the brain and along the spine, causing headaches, sensory problems, and muscle weakness.

Schwannomatosis is rare and is usually diagnosed in young adults. Tumors can form along nerves near the brain, spine, and peripheral nerves and can cause debilitating pain. People with this type of neurofibromatosis require ongoing monitoring and treatments from multiple specialists.

Although neurofibromatosis has no cure, we offer the highest level of comprehensive, specialty care and patient education to reduce symptoms and improve your quality of life.

Monitoring
For people with NF1, doctors will track new and existing skin spots, physical growth, development, vision, and blood pressure. People with NF2 require ongoing monitoring to address hearing loss, balance concerns, facial nerve damage, vision problems, and pain caused by tumor growth.

Tumor Treatment
Neurosurgeons, otologists and neurotologists (ear, nose, and throat doctors who have completed advanced training to treat ear disorders), radiation oncologists, neuro-oncologists, and others specialize in treating specific kinds of skull base tumors that affect people with neurofibromatosis. This includes benign and malignant tumors. Doctors may opt for observation to watch how quickly the tumor is growing, medication to try to shrink or stabilize the tumor, or surgery to remove the tumor entirely. Advanced surgical techniques help to preserve or restore hearing, including cochlear implantation.

Pain Management
Pain is often a serious concern for people with peripheral schwannomas (tumors on the nerves that transmit signals from your brain to the rest of your body) and other complications of neurofibromatosis. We offer pain management from pain specialists, and medications to treat severe nerve pain, when necessary.

Nationally Recognized Care
Duke has been recognized as one of 70+ sites in the NF Clinic Network by the Children’s Tumor Foundation. We are also one of a small number of U.S. hospitals verified as a Level I children's surgery center by the American College of Surgeons. This Level I designation recognizes our commitment to providing the safest and highest-quality surgical care to our young patients.

A Team of Specialists
Our team includes experts in genetics, neurology, neurosurgery, plastic and reconstructive surgery, ophthalmology, oncology, and otolaryngology. You or your child may also receive therapy from learning disabilities specialists and physical therapists. For your convenience, we coordinate your care to take place during the same visit, in the same place, whenever possible.

Advanced Imaging
We use advanced imaging to try to predict vision loss in patients with optic nerve tumors. Our rapid whole-body MRI can assess the entire body for tumors in a single scan, which can be helpful for monitoring tumor growth or assessing response to therapy.