Pediatric Neurofibromatosis Type 1 (NF1)
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:
- 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.
- 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.
- 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.
- 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.
- 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).
- 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
Roughly half of the people affected by NF1 have inherited the disease from a parent.
Some people with NF1 have only minor problems but others can develop serious problems like brain tumors as well as other types of tumors. They can also develop hormone problems that can affect their development. We recommend that both children and adults with NF1 see a specialist at least once a year to monitor the condition and help prevent avoidable complications.
Children with NF1 need regular physical exams to check their vision, blood pressure and spine. Here are some guidelines to follow:
Ages 1 to 5 years:
- Check long bones for bowing or fracture
- Watch developmental milestones and performance in preschool
- Have an eye exam and hearing test
- Check blood pressure
- Assess other family members for evidence of NF1
Ages 6 to 14 years:
- Watch school performance
- Consider tests for learning disabilities or hyperactivity
- Check the back for curvature
- Have an eye exam and hearing test
- Ask your doctor if special scans of the brain, eyes and spine are needed
- Monitor height, weight and sexual development
- Discuss self-esteem and relationships with friends and classmates
- Set aside time to talk about NF1 and how to respond to questions by friends
Ages 15 to 20 years:
- Monitor changes in the appearance of neurofibroma
- Continue to talk about NF1, relationships with friends and self-esteem
- Discuss inheritance of NF1 and likelihood of having a child with NF1
See an NF1 specialist right away if you or your child has:
- Pain or weakness near an affected nerve
- Blurred vision or loss of vision
- A sudden change in the size of a neurofibroma
- New tumors
- Bone fractures
Because NF1 causes spots and small tumors on the skin that can be seen, children with NF1 may feel isolated or get bullied. If this occurs, the best thing to do is to talk about NF1 with your family and your child’s friends and teachers.
You should also realize that your child might be frightened or angry about changes in their body. Simple, truthful and positive explanations such as, “You have a problem that causes spots and some bumps on your skin,” or, “You need to see a doctor regularly to make sure everything is OK,” can be reassuring to your child. You should try to talk more in detail with teenagers and make sure they have support to cope with their disorder. Set aside time to talk about self-esteem and relationships with friends.
Most children with NF1 can attend their regular school and do not require special education. However, some children with NF1 have learning disabilities that benefit from special education or therapy to help with speech, motor or behavioral issues.
In some people, NF1 can get worse over time. For example, neurofibromas may appear or grow during the hormonal changes that occur in teenage years and during pregnancy. While the problems caused by NF1 can be serious, this disorder usually does not keep people from living a normal and productive life.
Getting the right treatment team can help you prepare for changes that can occur with NF1. Make an appointment with our NF1 specialists. Make an appointment with our NF1 specialists.
Comer Children’s is one of the country’s leading centers for NF1 care. Our highly respected doctors have led research that has uncovered better insights and treatments for NF1. Because we are part of the Neurofibromatosis Clinical Trials Consortium and other research collaboratives, we can provide innovative treatments that are not available at most hospitals.
Our team is committed to providing comprehensive, compassionate care to people of all ages with NF1. If you or your child has NF1, we can provide the answers you need.
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