Neurofibromatosis Type 1 (NF1)

NF1 stands for neurofibromatosis (nur-oh-fye-broh-muh-TOE-sis) type 1. It is a disorder of the nervous system that affects the growth and development of nerve cells.

NF1 can cause tumors that are not cancerous (benign) to grow on nerves. These growths can also cause problems.

NF1 affects about 1 in 3,000 people. NF1 used to be called von Recklinghausen’s disease. There is a different condition called NF2-related schwannomatosis (shwahn-noh-muh-TOE-sis).

Scan this QR code or click on the link to watch our video Neurofibromatosis Type 1 (NF1).
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NF1 is caused by a genetic difference.

About half of children with NF1 have an abnormal NF1 gene from a parent (inherited). The rest of the time, the cause is a new genetic difference not passed down from a mother or father (not inherited).

The symptoms caused by NF1 vary widely from person to person. NF1 can affect many parts of the body.

Skin changes can include:

• Spots on the skin that are darker than your child’s normal skin color (café-au-lait spots)
• Small, skin-colored bumps on the skin (cutaneous neurofibromas)
• Underarm or groin area freckling

These changes in the skin help doctors diagnose NF1. It is common for these skin differences to increase as children get older. They do not usually cause health problems.

Neurofibromas are not cancerous (benign) tumors. They can happen in different places in or on the body:

• The skin (cutaneous, subcutaneous, or dermal): These neurofibromas can happen on or under the skin. They are not usually painful but are sometimes itchy.
• Deep within the body involving multiple nerves or along the nerves that extend from the spinal cord to the body (plexiform): These neurofibromas are less common but may grow bigger which could cause pressure on nerves or organs.

Children with NF1 should have a full physical exam at least once a year.

Some people with NF1 have difficulty with attention span, focus, learning and their ability to share their thoughts, ideas and feelings. This includes:

• Learning disabilities
• Attention deficit hyperactivity disorder (ADHD)
• Headaches

Children with NF1 may need extra help in school and may need special academic services, accommodation plans such as a Section 504 plan or an Individualized Education Program (IEP). Some children may need speech and language therapy, occupational therapy or physical therapy.

Some people with NF1 have tumors that grow on the nerves in the brain, including the nerves that lead to the eyes (optic pathway gliomas). These are the most common brain tumors in people with NF1.

Make sure your child with NF1 has a neurological exam and sees an NF specialist at least once a year.

People with NF1 often have tiny tan bumps in the colored part of the eyes (irises). These bumps are called Lisch nodules. They help us diagnose NF1, but they do not cause health problems.

Some children with NF1 have growths on their optic nerves (optic pathway gliomas), which usually do not cause any symptoms, do not require treatment and are non-cancerous (benign).

Have your child see an eye doctor (ophthalmologist) once a year to check for any signs of eye problems.

Some people with NF1 develop a curvature of the spine (scoliosis), outward curve (bowing) of the leg bones or a difference in the length of their legs.

Some children with NF1 are below average height, but it does not cause any health problems.

Most people with NF1 go through puberty in a typical way. Some children with NF1 have puberty start early or late (premature or delayed puberty).

Children with NF1 may have high blood pressure (hypertension). Your child should have their blood pressure checked with every doctor’s visit.

Hearing loss and ringing in the ears (tinnitus) sometimes happens in people with NF1. Have your child’s hearing checked once a year.

It is common for children with NF1 to have trouble pooping (constipation) and belly (abdominal) pain.

Treatment depends on your child’s symptoms and needs. It may include watching for early signs of problems and addressing issues quickly with medicine, surgery or other interventions.

Your child may need the following tests at different times as they get older:

• Genetic testing (blood or saliva test) for your child and possibly other family members
• Other blood tests
• MRI (magnetic resonance imaging)
• ECHO (echocardiogram)
• EKG (electrocardiogram)
• X-ray
• Neuropsychological testing

A diagnosis of NF1 can be overwhelming for some families. The best ways to make sure your child gets the help they need are to:

• Tell your child’s NF specialist right away of lumps or bumps that are growing quickly or becoming painful
• Schedule a visit with your NF specialist at least once a year
• Have your child’s eyes checked by an eye doctor (ophthalmologist) at least once a year
• Have your child’s hearing checked at least once a year
• Make sure your child has their blood pressure monitored every time they see the doctor
• Have your child’s back checked for curving at least once a year

• Seattle Children’s Hospital Neurofibromatosis condition page
  seattlechildrens.org/conditions/neurofibromatosis
• Children’s Tumor Foundation
  ctf.org/understanding-nf/nf1
• Neurofibromatosis Type 1 – KidsHealth
  kidshealth.org/en/parents/nf.html