What is neurofibromatosis?

Neurofibromatosis (NF) is a group of genetic conditions that cause tumors to grow along the body’s nerves or under the skin. Almost always the tumors are not cancer (benign). NF is present at birth, but its effects may not appear until later in childhood or young adulthood. How severe NF is varies widely from child to child. There is no cure, but expert medical care can reduce and manage the effects.

Neurofibromatosis is pronounced NOOR-oh-FY-broh-muh-TOH-sis. There are 2 main types: NF1 and NF2. Most children with NF have type 1. Doctors also have identified a very rare form, called schwannomatosis (shwan-o-ma-TOH-sis).

  • NF1 is also called von Recklinghausen's NF.
  • NF2 is also known as bilateral acoustic NF (BAN).
  • NF is caused by a genetic change. About half of children with NF inherit an abnormal gene from a parent. The rest of the time, the cause is a new genetic change that was not passed down from the mother or father.

Neurofibromatosis at Seattle Children's

Consistently ranked one of the nation's best neurology and neurosurgery programs by U.S. News and World Report.Seattle Children’s has the only pediatric neurofibromatosis program in the region, led by a neuro-oncologist with special training in treating children with NF. We partner with your family to give your child complete, evidence-based care. Our multidisciplinary team treats your whole child, not just their disease.

If you would like an appointment, ask your child’s primary care provider to refer you. If you have a referral, call 206-987-2016 to make an appointment.

    • We are experienced in treating the wide range of complications that may happen in different forms of NF. As your child grows, our team watches closely for early signs of problems so we can treat them right away.
    • If your child needs treatment for tumors, options include surgery, targeted therapies (MEK inhibitors), chemotherapy and, rarely, radiation therapy. We are studying how to lessen the need for surgery using targeted therapies to block a protein that leads to tumor growth.
    • Seattle Children’s takes part in national research studies, including those offered by the Children's Oncology Group (COG) and Pacific Pediatric Neuro-Oncology Consortium (PNOC).  

    Support for your whole family

    • Having a complex condition like NF can be scary and stressful for the whole family. Some parents feel overwhelmed by the many complications NF may cause as their child grows. Our experts keep a careful watch on your child so you can focus on being a parent.
    • During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.
    • Our doctors, nurses, child life specialists and social workers help your child and your family through the challenges of their condition. We connect you to community resources and support groups.
    • At Seattle Children's, we work with many children and families from around the Northwest and beyond. We can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

Symptoms of Neurofibromatosis

Symptoms of NF and how the disease progresses vary widely from child to child.

  • Your child may have:

    • Spots on the skin darker than your child’s normal skin color. These are called café-au-lait spots.
    • Small tumors on or under the skin. They may appear when a child is 10 to 15 years old. The tumors are almost always noncancerous. They may cause pain and itching.
    • Tumors that grow inside the body, called plexiform neurofibromas. These affect 25% of children with NF1. If the tumors press on nerves or organs, they can cause serious problems. They may also change how part of your child’s body looks.
    • Learning disabilities, which affect half of children with NF1. Some children with NF also have problems with attention and hyperactivity.
    • Freckles in the armpits or groin area.
    • Tiny tan bumps in the colored part of the eyes (iris). These are called Lisch nodules.
    • Tumors along the nerve that sends signals from the eye to the brain. These are called optic gliomas. In most cases, they do not cause symptoms.
    • Headaches.
    • Curvature of the spine (scoliosis) or bowing of the legs.
  • Most often, symptoms of NF2 appear between 18 and 22 years as a result of tumors getting larger. But our program serves many younger children as well.

    Your child may have these symptoms:

    • Ringing in the ear (tinnitus).
    • Hearing loss starting as early as the teen years. This is caused by tumors along the nerve that carries sound and balance information from the inner ear to the brain (eighth cranial nerve). These are called vestibular schwannomas.
    • Cataracts at a young age.
    • Other benign tumors in the spine or brain (such as meningiomas).
    • Balance problems.
    • Numbness in the face or other parts of the body.
    • Headaches.
    • Wasting of muscles (atrophy).
  • The main symptom is benign tumors that can form on nerves anywhere in the body. They may cause pain that is hard to manage. These tumors are called schwannomas.

    In addition to pain, the tumors may cause:

    • Numbness
    • Tingling
    • Vision changes
    • Headaches
    • Weakness
    • Problems with peeing or pooping

Diagnosing Neurofibromatosis

Our genetics team takes the lead on diagnosing your child. We will examine your child to look for signs of the different types of NF. Often it is helpful to check your child’s blood to look for changes in the genes that cause NF. Genetic testing is especially helpful if you do not have a family history of NF.

Our genetic counselors help you understand the pros and cons of genetic testing and explain test results. Genetic counseling can help you learn about your child’s condition and make informed decisions about treatment and family planning.

  • This form of NF is most often diagnosed in adulthood. It can be hard to diagnose because other conditions cause similar symptoms. Your child will have MRI scans to check for tumors along nerves in their body.

  • To decide if your child has NF1, doctors will:

    • Look for symptoms like skin changes or small bumps
    • Consider imaging studies such as MRI (magnetic resonance imaging) or X-ray
    • Check for bumps on the colored part of your child’s eye
  • To diagnose NF2, doctors will examine your child and ask about any family history of NF2. Your child may have:

    • Imaging studies to look for tumors in or near your child’s hearing (auditory) nerves, spinal cord and brain.
    • Hearing tests.
    • A test to check function of the nerve that carries sound from the inner ear to the brain. This is called a brainstem auditory evoked response.
    • A detailed eye exam.

Treating NF 1

There is no cure for NF1. Yearly check-ups help find problems early and treat the effects. At Seattle Children’s pediatric neurofibromatosis program, we give your child complete, coordinated care.

  • Many children with NF1 have lumps on and under the skin that do not need treatment. These are called dermal neurofibromas.

    Tumors that grow deeper inside the body (not in the brain or spinal cord) affect 25% of children with NF1. These tumors are called plexiform neurofibromas. If the tumor presses on nerves or organs, it can cause serious problems. In about 10% of children, tumors become cancerous.

    We watch closely and treat tumors that may affect your child’s ability to move, breathe, swallow, talk, see or hear. We also treat tumors that cause pain or significant disfigurement. Treatment options include:

    • Surgery to remove all or part of dermal neurofibromas or plexiform neurofibromas. Surgery may not be an option if the tumor is deep in the body or if removing it risks damage to healthy nerves and tissues.
    • Targeted therapies to block a protein (MEK) that causes tumors to grow. These medicines are called MEK inhibitors and are taken as a pill. They have been shown in research studies to shrink tumors, reduce pain and disfigurement and improve mobility. We use MEK inhibitors to treat plexiform neurofibromas and tumors growing in the brain or on the nerves from the eye to the brain (optic pathway). We offer targeted therapies as part of standard treatment and in research studies of promising new treatments.
    • Chemotherapy for tumors growing in the brain or optic pathway.

    Our Brain Tumor experts lead global research on new treatments to increase cure rates and reduce side effects of therapy.

  • Regular eye examinations are an important part of care for NF1. About 15% of children with NF1 have tumors in the nerve behind their eye. These are called optic gliomas (glee-OH-muhs). Most do not need treatment. When they affect vision, we treat them with chemotherapy or targeted therapies. Less often, we use radiation therapy. If your child has this type of tumor, experts in ophthalmology will be part of your child’s care team.

  • Up to 20% of children with NF1 have a sideways curve in their spine (scoliosis). Depending on how severe your child’s curve is, treatment options may include wearing a back brace or having surgery. See how we treat scoliosis.

    About 5% of children have bowing in their lower legs. For problems affecting the spine or limbs, we work with specialists in orthopedics to be sure your child gets the care they need. 

    If your child’s tumors affect their ability to move, their care will include physical therapists (PTs) and occupational therapists (OTs). OTs and PTs assess and treat problems affecting your child’s motor skills.

  • Half of children with NF1 have problems with learning, speech or ADHD (attention deficit hyperactivity disorder).

    We check your child at each visit and recommend treatments and services they may need. Your child will have a complete neurological exam before they start school.

    As needed, your child will see Seattle Children’s experts in:

  • About 30% of children with NF1 are shorter than kids of the same age. In some children, puberty may be early (precocious) or delayed. If your child has problems related to their hormones, they will get care from experts in endocrinology.

  • If your child has tumors on their face or neck, we partner with the Craniofacial Center, and with you, to create a plan of care tailored to your child. These tumors may affect your child’s movement, speech, feeding and how they look. We may treat them with surgery or targeted therapies. The craniofacial team of 50 experts covers 19 different specialties. These include plastic surgeons, otolaryngologists, neurosurgeons, physical therapists (PTs) and occupational therapists (OTs).

Treating NF 2

If your child has NF2, regular check-ups and imaging studies help us find problems early.

  • We watch closely for signs that tumors might lead to problems like hearing loss, facial paralysis or disfigurement. If tumors need treatment, your child may have surgery to remove all or part of the tumor. We will talk with you about the pros and cons of surgery. Depending on your child’s needs, they may get care from a neurosurgeon, otolaryngologist or other members of the Craniofacial Center team.

  • If a tumor could harm your child’s hearing, we may treat it with chemotherapy or radiation therapy in addition to surgery.

    If a tumor causes hearing loss, our otolaryngology our experts may offer these options:

    • A small, surgically implanted electronic device (cochlear implant) that can help give Deaf or hard-of-hearing children a sense of sound. Learn more about cochlear implants.
    • An auditory brainstem implant that sends signals directly to the brain, allowing people to hear certain sounds and speech.
  • Some children with NF2 develop cataracts at a young age. These may affect your child’s eyesight. We check their vision regularly. If your child needs treatment, we partner with experts in ophthalmology.

Treating Schwannomatosis

Treatment for this form of NF depends on your child’s symptoms. Some children need surgery to remove tumors that cause pain or other problems because they are pressing on nerves or organs. If tumors cannot be removed, your child’s team will focus on managing pain or other symptoms.

At this time, no medicine is known to be effective in treating this form of NF.

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