What is neurofibromatosis type 1 (NF1)?

Neurofibromatosis type 1 (NF1) is the most common form of neurofibromatosis (NF), a genetic disorder that causes tumors to grow on nerves anywhere in the body. NF1, sometimes referred to as peripheral neurofibromatosis or von Recklinghausen’s disease, can also cause learning difficulties and growth problems in children.

If you or your child has NF1, it is important to see specialists who can help you monitor the disease over time and recommend the right treatment when needed. As the largest NF program in the country and one of only a few centers specializing in NF1, Comer Children’s provides a team-based approach to care with a focus on prevention. We also have a long history of advancing research on innovative treatments for NF1.

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What are signs and symptoms of NF1?

Some signs of NF1 may appear within the first year of life. Other signs may develop as people get older. Some of the common neurofibromatosis type 1 signs and symptoms include:

  1. Brown oval or circular spots on the skin called café-au-lait spots: These are the most common sign of NF1. Other skin signs include freckles under the arms or in the groin.
  2. Benign soft tumors or lumps on or below the skin: These are called neurofibromas and affect most people with NF1. Some people with NF1 have tumors or growths that involve deeper tissues, including the nerves, called plexiform neurofibromas. These growths can sometimes be large and change the normal shape of a part of the body or affect internal organs. Occasionally, cancer can form in a plexiform neurofibroma.
  3. Brownish-red spots in the iris (the colored part of the eye): These are called Lisch nodules and usually do not cause any symptoms. They are unusual in young children but often develop in teenagers and adults.
  4. Learning difficulties: As many as 60 percent of children with NF1 have short attention span, hyperactivity or some difficulty learning in school. Some have problems with visual perception, which makes spelling and math more difficult. Children may also have headaches and difficulties with hearing that can affect schoolwork.
  5. Growth problems: People with NF1 may be shorter or have slightly larger heads than the average person. NF1 may also affect bone growth. Some people with NF1 may have bones shrink, bend or break and not heal (pseudoarthrosis). Others may have curvature of the spine (scoliosis).
  6. Brain and optic nerve tumors: People with NF1 can develop these tumors, namely low-grade gliomas.

NF1 affects people differently, even within the same family. Some people with NF1 will only have café-au-lait spots and neurofibromas, while others may have more serious problems.

What causes pediatric neurofibromatosis type 1?

NF1 is caused by a mutation in the NF1 gene. About half of people with NF1 inherit this genetic mutation from a parent. The other half do not have a family history of the disease and develop this genetic mutation at some point during their lifetime.

How is NF1 diagnosed?

To diagnose NF1, our team will conduct a thorough examination and take a detailed medical history. We will also order tests, such as:

  • Genetic testing to test for the NF1 gene mutation (These tests can also be done during pregnancy.)
  • Eye exam to check for Lisch nodules in the iris
  • X-rays to check for tumors or abnormal bone formations

How is neurofibromatosis type 1 treated?

NF1 cannot be cured, but it can be managed, which involves regular monitoring by a specialist who sees a high volume of people with the condition. Monitoring can include:

  • Annual (or more frequent) physical exams
  • Imaging tests, such as X-rays, computed tomography (CT) and magnetic resonance imaging (MRI) to check for tumors, spinal curvature and other bone issues
  • Blood tests and biopsies to check if tumors are benign or malignant (cancerous)

Treatments for NF1 include:

  • Surgery to remove tumors
  • Chemotherapy, targeted therapy, or radiation therapy to shrink tumors
  • Braces to correct bone problems
  • Special education to help learning disabilities
  • Counseling to help address stress or anxiety from the disease
  • Other medications to help manage symptoms like pain or high blood pressure, which can occur with NF1

Frequently Asked Questions

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