Overview

Understanding neurofibromatosis

Neurofibromatosis causes tumors to form on nerves throughout the body. At UW Health, our Comprehensive Pediatric Neurocutaneous Disorders Clinic experts diagnose and treat neurofibromatosis and other disorders.

Types and causes

Types of neurofibromatosis

Neurofibromatosis causes tumors to develop on nerve tissue. These tumors are typically benign (non-cancerous).

Neurofibromatosis is a type of disorder that affects both the nervous system (neuro) and skin (cutaneous). These conditions are called neurocutaneous disorders.

There are three types of neurofibromatosis:

Tumors throughout the nervous system

Tumors on specific nerves in the brain that affect hearing and balance

Tumors on or near the brain and spinal nerves

Other neurocutaneous disorders

Other neurocutaneous disorders include:

  • Ataxia telangiectasia

  • Gorlin syndrome

  • Tuberous sclerosis

  • Von Hippel-Lindau disease

Genes cause these disorders, and they are present at birth (congenital). Genetic conditions can be passed down from parents or occur with no family history.

Symptoms and diagnosis

Signs and symptoms of each type of neurofibromatosis

Each type of neurofibromatosis has different signs and symptoms. These signs can develop throughout childhood. Most symptoms of neurofibromatosis are mild. Symptoms become more severe when tumors affect specific nerves or organs.

NF1 is the most common type of neurofibromatosis. Signs of NF1 usually appear after birth or during early childhood. NF1 symptoms include:

  • Bone deformities (curved spine or bowed leg)

  • Bumps in and under the skin (neurofibromas)

  • Freckling in the armpits or groin

  • Headaches

  • Larger-than-average head size

  • Learning disabilities

  • Skin spots (often called café-au-lait spots)

  • Tiny bumps on the eye

NF2 is less common than NF1. Signs of NF2 usually appear in teens and young adults. NF2 symptoms include:

  • Balance problems

  • Headaches

  • Hearing loss

  • Ringing in the ears

Schwannomatosis is a rare form of neurofibromatosis. Signs of schwannomatosis typically develop after age 20. Symptoms include:

  • Chronic pain

  • Muscle loss

  • Numbness or weakness

Diagnosing neurofibromatosis

Doctors typically diagnose this condition after symptoms develop. If your child is born with signs of neurofibromatosis, or it runs in your family, our doctors may suggest genetic testing.
When symptoms develop at later ages, our doctor may use several tests to make a diagnosis. These include:

  • Blood tests

  • Eye examination

  • X-rays or MRI tests

  • Tissue samples

Treatments and research

Helping children live full lives

There is no cure for neurofibromatosis or other neurocutaneous disorders. Treatment can manage early complications and help your child live a full life.

At UW Health, we address the physical, emotional and social needs of children with tumors affecting their nervous system. Our treatments and therapies include:

  • Behavioral health care

  • Hearing therapy

  • Medication

  • Movement therapies (physical and occupational)

  • Speech therapy

  • Surgery (for tumor removal or bone problems)

  • Visions treatment

Our team is also committed to learning more about this condition and how best to treat it. We conduct clinical trials of new medications and therapies.

Meet our team

Many experts caring for your child

Our Comprehensive Pediatric Neurocutaneous Disorders Clinic includes experts in cancer, dermatology, genetics, neurology, neuropsychology, neurosurgery and rehabilitation.

Patient stories

Facing neurofibromatosis head on

Unstoppable Emma

Emma was born with neurofibromatosis 1. By the time she was 7, she had undergone 13 surgeries. Despite it all, Emma is thriving.



Watch Emma's story

Locations

A comprehensive clinic, close to home

We offer care for neurofibromatosis and other neurocutaneous disorders at our clinic in Madison.

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  • American Family Children's Hospital - Comprehensive Pediatric Neurocutaneous Disorders Clinic
    • 1675 Highland Ave. / Madison, WI
    • (608) 263-6420
    • Open now
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We care for your child as if they are our own

With our expertise comes compassion. Our team considers you and your child part of our family. We will be by your side every step of the way. From diagnosis through treatment and into adulthood, we will care for your child as if they are our own.

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