David Van Mater, MD, PhD, is the director of the Duke Comprehensive Neurofibromatosis Clinic in Durham, North Carolina. He is also a pediatric hematologist at Duke Health and an associate professor of pediatrics at Duke University School of Medicine.
Neurofibromatosis (NF) is a group of genetic conditions that cause tumors to grow on the nerves and skin. They can cause symptoms in the brain, spinal cord, skin, eyes, and more. The tumors aren't cancerous, but there's a chance they can develop into cancer.
Most people are diagnosed with neurofibromatosis as children. The symptoms vary by person, and they can worsen over time. Although there's no cure, the symptoms are managed with medicine, surgery, devices, and therapies. You'll see a team of specialists. WebMD spoke to David Van Mater, MD, PhD, a pediatric hematologist and director of the Duke Comprehensive Neurofibromatosis Clinic in Durham, North Carolina, about who gets neurofibromatosis, how it's treated, and what you can expect after a diagnosis.
Q. Who gets neurofibromatosis?
Neurofibromatosis is caused by a genetic mutation. About half of the time, this gene is passed down from a parent. The rest of the time, it's the result of a sudden, random change on a certain gene. There's no known reason for it.
Neurofibromatosis is considered a rare disease, because it's not very common. It affects about one in 2,000 people. Anybody can get it, and it affects all genders, races, and ethnicities equally.
Q. What are the different types of neurofibromatosis?
There are three kinds of neurofibromatosis. They're caused by mutations on different genes.
- Neurofibromatosis type 1 (NF1) is the most common. It accounts for 96% of all cases. It's caused by a change on the neurofibromatosis 1 gene, which plays a role in cell growth and bone and brain health. NF1 can cause many symptoms, but the hallmark is flat, light brown spots on the skin called café-au-lait spots.
- Neurofibromatosis type 2 (NF2) makes up 3% of neurofibromatosis cases. It's caused by a mutation on the NF2 gene. This gene prevents tumors from developing, so NF2 leads to noncancerous tumors. Most of the time, tumors grow on the nerves that connect the ears to the brain, which can affect hearing and balance.
- Schwannomatosis is the rarest type of neurofibromatosis. Less than 1% of people with NF have schwannomatosis. Changes in one of two genes – SMARCB1 or LZTR1 – result in schwannomatosis and lead to tumor growth on nerve coverings.
Q. What are the symptoms of neurofibromatosis?
The symptoms and severity of neurofibromatosis look different from person to person. It also depends on what type you have. The signs of neurofibromatosis type 1 are often present at birth or appear in early childhood, so most people are diagnosed by age 10. They include:
- Café-au-lait spots
- Freckling in the armpit or groin
- Noncancerous tumors called neurofibromas that grow under your skin and look like bumps
- Tumors on your iris (Lisch nodules) or optic nerve (optic glioma). Optic gliomas often cause vision loss.
- Bone changes, such as an abnormal curving of the spine called scoliosis
- Learning disabilities
- Large head size and short height
Neurofibromatosis type 2 symptoms tend to become noticeable later, so it's usually diagnosed in the late teens or 20s. NF2 causes tumors that grow on an inner ear nerve. This can lead to hearing and balance problems. It may also lead to cataracts and other vision issues.
Schwannomatosis is typically diagnosed in people over age 30. Its tumors can grow throughout the body, causing various symptoms depending on what nerves they affect. They can include lumps beneath the skin, pain, headaches, vision changes, and weakness.
Q. How is neurofibromatosis diagnosed? What kind of doctors will you see?
Usually, your pediatrician or primary care physician will notice symptoms and refer you to a neurofibromatosis specialist, such as a geneticist, neurologist, hematologist, or oncologist, like myself. We look for several criteria. For example, people with neurofibromatosis type 1 typically have six or more café au lait spots. Sometimes, we'll order genetic testing to confirm the diagnosis.
Because neurofibromatosis causes a wide range of symptoms, you'll usually have different providers on your care team. They can include genetic counselors to explain the disease; neurologists to treat headache and seizure; neurosurgeons to treat brain and spine tumors; and ophthalmologists to manage eye complications. You may also visit other specialists, such as a dermatologist, oncologist, and pain management doctor.
Q. How is neurofibromatosis treated? How does it progress?
Neurofibromatosis is a progressive disease. That means it can get worse over time, although every patient is different. You may grow and develop new tumors.
There's no one treatment for neurofibromatosis. In general, we look for the manifestations and treat them when we can. We'll monitor you or your child's health, so we can catch and address issues in their earliest – and most treatable – stages.
For example, if you have an optic glioma, your doctor may recommend chemotherapy, radiation therapy, or surgery to prevent vision loss. Or you may need physical therapy or a brace for NF1-related scoliosis. Roughly half of children with NF1 have a learning or development challenge, such as autism or ADHD, and early interventions like therapy can improve their progress.
For tumors causing problems, such as pain, you may need surgery to remove some or all of the tumor. If your child has a large tumor where surgery isn't possible, your doctor may prescribe mirdametinib (Gomekli) or selumetinib (Koselugo). These medicines can shrink the size of tumors.
People with neurofibromatosis are more likely to develop cancer, so early and regular screenings are important. Research shows that people with neurofibromatosis type 1 are almost 10 times more likely to have any kind of cancer. Because of this risk, women with neurofibromatosis should start getting mammograms at age 30.
Q. What's the outlook for those with neurofibromatosis?
If you or your child is diagnosed with neurofibromatosis, there's good news. Most patients live a full and complete life. There are also a number of promising new treatments on the horizon. The FDA recently approved selumetinib to reduce tumor size in children, and they're studying its effects in adults, too. Scientists are also developing targeted and gene therapies for the treatment of neurofibromatosis. There's a lot of reasons to be hopeful about the future of neurofibromatosis.
