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

Formerly called Neurofibromatosis Type 2, these tumors on specific nerves in the brain that affect hearing and balance or other areas of the spinal cord.

Tumors on or near the brain and spinal nerves

Other neurocutaneous disorders

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. Other neurocutaneous disorders include:

Affects the nervous and immune systems. Children may have difficulty walking, have problems with balance or hand coordination, experience muscle twitches, have slurred speech or trouble moving their eyes side to side. Groups of enlarged blood vessels in the eyes and on the surface of the skin may also be a characteristic.

Also called Gorlin Syndrome, this can increase the risk of developing basal cell carcinoma (BCC) skin cancers and tumors that are mostly non-cancerous. Symptoms may include benign cysts in the jawbone, or small depressions in the palms of the hand or soles of the feet.

Growth of numerous noncancerous tumors throughout the body. These tumors may occur in the skin, brain, kidneys and other organs. Some tumors may cause neurological disorders including hyperactivity, aggression, intellectual disability, autism, psychiatric conditions or seizures.

Results in the formation of tumors or cysts in different parts of the body. They may be cancerous or non-cancerous and normally appear during young adulthood. Growths are made of newly formed blood vessels and may cause vision loss, headaches, vomiting, weakness or loss of muscle coordination.

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.

Our providers

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


A comprehensive clinic, close to home

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

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