Key Takeaways:
- Neurofibromatosis is a group of genetic conditions. They cause tumors to grow along nerves. Most of these tumors are benign, but they need careful watching.
- NF1 is the most common type. It affects roughly 1 in every 2,660 babies, and about half of those children have no family history of the condition.
- The first signs usually appear on the skin. Flat, light brown patches called café-au-lait spots often show up in the first years of life.
- Monitoring is a central part of care. Regular exams and eye checks help a care team catch changes early, when there are more options.
- Treatment has advanced. Two FDA-approved medications can now shrink certain NF1 tumors that cannot be safely removed with surgery.
- Specialized care is available in Las Vegas. The Neuro-Oncology Multidisciplinary Clinic at Cure 4 The Kids Foundation cares for children with NF1 and NF2.
What Is Neurofibromatosis?
Neurofibromatosis (NF) is a group of genetic conditions that cause tumors to grow on nerves in the skin, brain, spinal cord, and other parts of the body. Most of these tumors are benign, meaning they are not cancer, but they can cause problems depending on where they grow. The most common form, neurofibromatosis type 1 (NF1), is usually diagnosed in early childhood and calls for monitoring throughout life.
What Are the Types of Neurofibromatosis?
There are two types families hear about most often.
Neurofibromatosis type 1 (NF1) is by far the most common. It affects the skin, nerves, eyes, and bones, and its signs usually appear in early childhood.
NF2-related schwannomatosis is the condition long known as NF2. It typically causes tumors on the nerves responsible for hearing and balance, and it is often found in the teen or young adult years. In 2022, an international group of experts updated the name and diagnostic criteria, retiring the term “neurofibromatosis 2” to make diagnoses more precise. Many families and providers still say NF2, so you may hear both names.
How Common Is Neurofibromatosis?
NF1 is one of the more common genetic conditions. A 2023 analysis of studies from around the world estimated that NF1 occurs in about 1 in every 2,660 births, while NF2 is far rarer, at roughly 1 in 50,000 births.
NF1 can be passed from a parent to a child, and a parent with NF1 has a 50% chance of passing it on with each pregnancy. About half of children with NF1, though, are the first in their family to have it, because the gene change happened on its own.
What Are the Signs of NF1 in Children?
Doctors diagnose NF1 using a set of criteria that were revised by an international panel in 2021 to reflect advances in genetics, eye care, dermatology, and imaging. A child who has two or more of these features generally meets the criteria:
- Six or more café-au-lait spots (flat, light brown patches on the skin)
- Freckling in the armpits or groin
- Two or more neurofibromas (soft bumps on or under the skin), or one plexiform neurofibroma (a larger tumor that grows along a nerve)
- A tumor on the optic pathway, the nerves that carry signals from the eyes to the brain
- Small, harmless spots on the iris or specific changes at the back of the eye, found during an eye exam
- Distinctive bone changes
- A genetic test showing a change in the NF1 gene
- A parent who has NF1
Many of these signs appear with age, so a young child may have only skin spots at first. One or two café-au-lait spots are common in children who do not have NF. If your child has several, their pediatrician can help decide whether an evaluation makes sense.
Why Is NF1 Called a Tumor Predisposition Syndrome?
NF1 changes a gene that normally helps control cell growth. When that gene does not work as it should, tumors are more likely to form over time. Two kinds matter most in childhood.
Plexiform neurofibromas. These tumors grow along nerves and affect about half of people with NF1. They can cause pain or affect how a part of the body works, and a small number become cancerous, which is one reason regular monitoring matters.
Optic pathway gliomas. These slow-growing tumors develop in 15% to 20% of children with NF1, most often before age 5, and a little over a third of them go on to cause symptoms. Regular eye exams help a care team spot the ones that need treatment.
Because tumor growth is at the center of NF1, ongoing care is often led by a neuro-oncology team, whose training is in monitoring and treating tumors of the nervous system.
Does NF1 Affect Learning and Attention?
It can. The American Academy of Pediatrics notes that most children with NF1 grow and develop within the typical range. Learning and attention differences are common, though. A 2026 review found that cognitive and behavioral difficulties affect up to 70% of children and teens with NF1. A separate analysis of 70 studies found that children with NF1 have notably more ADHD symptoms than their peers, inattention in particular.
Knowing this early helps. A neuropsychological evaluation can identify where a child needs support, and families can use those results to request school accommodations.
How Is Neurofibromatosis Treated?
There is no cure for NF yet, so care focuses on watching closely and treating problems as they arise. Many children need only regular monitoring for years at a time.
When a tumor causes symptoms, options depend on its type and location. Some tumors can be removed with surgery. Plexiform neurofibromas often wrap around nerves and other structures, which makes complete removal difficult.
For those tumors, medication is now an option. Selumetinib, approved by the FDA in 2020, was the first therapy approved for children with this kind of tumor. In long-term follow-up of the trials behind that approval, 70% of the 74 children enrolled saw their tumors shrink by at least 20%, along with lasting improvement in pain. In February 2025, the FDA approved a second medication, mirdametinib, for patients age 2 and older after a trial in which 52% of the children who took it had their tumors shrink.
These medications are not right for every child, and they carry side effects that need monitoring. Your child’s care team can explain whether one makes sense for your family.
Who Should Manage a Child’s NF Care?
NF1 touches many parts of a child’s health, so care works best when specialists coordinate. The American Academy of Pediatrics publishes health supervision guidance for children with NF1 that calls for regular visits and eye exams through childhood. In releasing that guidance, the AAP noted that children can benefit from evaluation at a center with NF expertise that works alongside their pediatrician.
Where Can Nevada Families Find Care for Neurofibromatosis?
At Cure 4 The Kids Foundation, children with NF1 and NF2 are cared for through the Neuro-Oncology Multidisciplinary Clinic in Las Vegas. The clinic is led by Dr. Sumit Gupta, Director of Neuro-Oncology. It is listed in the Neurofibromatosis Network’s national directory of NF clinics.
During a single visit of about two hours, families may meet with a pediatric neuro-oncologist, clinical neuropsychologist, genetic counselor, clinical pharmacist, and physical therapist. Any imaging or specialty referrals are arranged before you leave. If part of your child’s care takes place elsewhere, such as surgery, our neuro-oncology team continues to coordinate the plan so your family always has one place to turn with questions.
Frequently Asked Questions About Neurofibromatosis
Is neurofibromatosis a type of cancer?
No. NF is a genetic condition that causes tumors to grow on nerves, and most of those tumors are benign. A small number can become cancerous, which is why regular monitoring is part of care.
Is neurofibromatosis inherited?
Sometimes. A parent with NF1 has a 50% chance of passing it to each child. About half of children with NF1 have no family history, because the gene change occurred on its own.
Can neurofibromatosis be cured?
There is no cure today. Care focuses on monitoring and on treating symptoms as they come up, and FDA-approved medications can now shrink some NF1 tumors that cannot be removed with surgery.
Do café-au-lait spots always mean a child has NF?
No. One or two spots are common in children without NF. Six or more is one of the features doctors look for, and a diagnosis generally requires at least two features. However, when in doubt, refer to a neuro-oncologist like Dr. Gupta at Cure 4 The Kids Foundation. A specialist can determine whether or not your child has neurofibromatosis.
Why is NF treated by a neuro-oncologist?
Neurofibromatosis has a genetic cause, but ongoing care centers on monitoring and managing tumor growth. That work fits a neuro-oncology team, whose expertise is in tumors of the brain and nervous system.
Do I need a referral to be seen at Cure 4 The Kids Foundation?
Yes. Families are referred by a provider. Call 702-732-3330 to learn more about the referral process.
About the Author: Annette Logan-Parker brings over 30 years of experience in pediatric oncology to her role as Founder and Chief Advocacy & Innovation Officer at Cure 4 The Kids Foundation. She has dedicated her career to improving outcomes for children with cancer and ensuring equitable access to cutting-edge treatments for all families.
