Neurofibromatosis (NF)

Our team works closely with Seattle Children’s experts in many other medical fields to give your child complete care. These include:

• Audiology
• Dermatology
• Endocrinology
• Gastroenterology
• General Surgery
• Genetics
• Nephrology
• Neurodevelopmental
• Neuropsychology
• Neurosurgery
• Oncology
• Ophthalmology
• Orthopedics
• Otolaryngology
• Pain Medicine
• Plastic Surgery
• Psychiatry
• Radiology
• Rehabilitation Medicine

Your child may have:

• Spots on the skin darker than your child’s normal skin color. These are called café-au-lait (English: coffee with cream) spots. They do not cause problems.
• Freckles in the armpits or groin area. These do not cause problems.
• Tiny tan bumps in the colored part of the eyes (iris). These are called Lisch nodules. They do not cause problems.
• Small tumors on or under the skin, called dermal or cutaneous neurofibromas. The tumors are not cancerous. Besides minor discomfort or itching, they rarely cause other symptoms.
• Tumors that grow inside the body or along multiple nerves, called plexiform neurofibromas. If the tumors press on nerves or organs, they can cause problems.
• Tumors along the nerve that sends signals from the eye to the brain. These are called optic pathway gliomas. In most cases, they do not cause symptoms.
• Challenges with attention span, focus, learning and the ability to share their thoughts, ideas and feelings.
• Curvature of the spine (scoliosis) or bowing of the legs.

Some children with NF2-related schwannomatosis have tumors along the nerves that carry sound and balance information from the inner ear to the brain. These are called vestibular schwannomas. They may cause symptoms like:

• Ringing in the ear (tinnitus)
• Balance and coordination challenges
• Hearing loss

Other benign tumors in the spine or brain (such as meningiomas, nonvestibular schwannomas or ependymoma tumors) may cause these symptoms:

• Headaches
• Numbness or weakness in the face or other parts of the body

Your child’s vision may be affected if they have cataracts or abnormalities in the lining in the back of their eye (retina).

Children who have other types of schwannomatosis have noncancerous (benign) tumors, called schwannomas. These schwannomas can form on nerves anywhere in the body. They may cause pain that is hard to manage.

In addition to pain, the tumors may cause:

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

Subtypes of schwannomatosis that are not NF2-related include:

• SMARCB1-related schwannomatosis
• LZTR1-related schwannomatosis
• 22q-related schwannomatosis
• Schwannomatosis NOS (not otherwise specified)
• Schwannomatosis NEC (not elsewhere classified)

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 (iris)

To diagnose NF2-related schwannomatosis, doctors will examine your child and ask about any family history of the condition. Your child may have:

• Imaging studies to look for tumors in or near your child’s hearing (auditory) and balance 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.

Types of schwannomatosis that are not NF2-related are most often diagnosed in adulthood. They 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.

Many children with NF1 have lumps on and under their skin, called dermal neurofibromas. These do not need treatment.

Plexiform neurofibromas are tumors that grow deeper inside the body or along multiple nerves (not in the brain or spinal cord). If the tumor presses on nerves or organs, it can cause problems.

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 plexiform neurofibromas to grow. These medicines are called MEK inhibitors and are taken as a pill. Research studies show MEK inhibitors shrink tumors, reduce pain and disfigurement and improve mobility.

Treatment options include:

• Targeted therapies (MEK inhibitors) to block a protein that causes the growth of brain and spine tumors in patients with NF1. MEK inhibitors can stabilize these tumors.
• Chemotherapy.
• Neurosurgery to remove tumors that cause symptoms. Our Brain Tumor experts lead global research on new treatments to increase cure rates and reduce side effects of therapy.
• Rarely, radiation therapy.

Regular eye exams 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 pathway gliomas (glee-OH-muhs). Most do not need treatment.

When the tumors affect vision, we treat them with chemotherapy or targeted therapies. Less often, we use radiation therapy. Experts in ophthalmology will care for your child if they have this type of tumor.

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, physical therapists (PTs) and occupational therapists (OTs) will assess and treat them.

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.

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

• The relationship between the brain and your child’s behavior, learning and mood (neuropsychologists)
• The brain’s development and how it relates to behavior (developmental neuropsychiatrists)

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).

We watch closely for signs that tumors might lead to problems like hearing loss, facial paralysis, disfigurement, numbness, weakness or balance issues. 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 or otolaryngologist. Most patients with NF2-related schwannomatosis will have annual brain and spine imaging.

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

If a tumor causes hearing loss, treatment options include:

• 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.

At least once a year, we check the vision of children with NF2-related schwannomatosis. Some children with this condition develop cataracts and abnormalities of the retina at a young age. These may affect your child’s eyesight.

If your child needs treatment, we partner with experts in ophthalmology.