When Your Child Has Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1 (NF1) is a condition that causes the abnormal growth of pigment cells in the skin, and of nerve cells in the body. NF1 is usually not life-threatening. But it can cause problems over time. These may include seizures, developmental delay, and increased risk of non-cancer tumors. Your child’s healthcare provider will tell you more about your child’s condition and treatment choices for your child. 

What causes NF1?

NF1 is caused by a change (mutation) in genes that affect nerve growth. This change can happen by chance. It can also be passed down in families. If a diagnosis is confirmed, parents and siblings should be checked for the condition as well.

What are the symptoms of NF1?

Symptoms for NF1 include:

• Skin lesions. These can include light-brown spots or freckles in the underarms and groin. The light-brown spots are called café-au-lait spots. These skin lesions are not harmful to health. But they may cause a child to feel self-conscious.

• Tumors. These can grow on or under the skin. They can also form along certain nerves, especially the optic (eye) nerve or spinal nerves. Tumors can also form in the brain and other body areas. The tumors are usually benign (not cancer).  But tumors that grow in certain areas of the body can cause serious problems that need treatment.

• Problems with bone growth. This can happen especially along the spine. This may cause scoliosis.

• Neurologic problems. These may include headaches or seizures. A child may also have developmental delay. This may include problems with learning, reasoning, or behavior.

• Cognitive and behavioral problems. Many children with NF1 can have trouble adjusting at school. This may cause them to feel depressed and parents to worry. This issues need to be recognized early on and addressed appropriately.

How is NF1 diagnosed?

Many symptoms are not present in the early years, but will arise by the age of 10. It often takes several years to make the diagnosis of NF1. Your child will likely see a pediatric neurologist for diagnosis and treatment. This is a healthcare provider who treats neurologic problems. He or she will ask about your child’s history. This is to learn more about your child’s symptoms, other health problems, and family medical history. Your child may also have tests, such as:

• Neurologic exam. This is to check how well your child’s nervous system is working. During the exam, the healthcare provider checks your child’s muscle strength, balance, coordination, and reflexes. He or she also checks skills, such as memory, vision, hearing, talking, and swallowing.

• Skin exam. This is to check forNF1 skin lesions or tumors.

• Imaging tests. These are to check for tumors and see where they are growing.

• Genetic tests. These are to check for the mutation.

To diagnose NF1, a healthcare provider looks for 2 or more of the below:

• 6 or more light brown spots on the skin (café-au-lait spots), measuring more than 5 millimeters across in younger children or more than 15 millimeters across in older children

• 2 or more neurofibromas, or 1  neurofibroma that affects many nerves (plexiform neurofibroma)

• Freckles in the armpit or the groin

• 2 or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas)

• A tumor on the optic nerve (optic nerve glioma)

• Abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or one of the long bones of the shin called the tibia

• A parent or sibling with NF1

How is NF1 treated?

Treatment for NF1 depends on your child’s needs. Treatment may include:

• Surgery. This may be done to remove any tumors or correct any skin lesions.

• Medicines. These can help control other health problems, such as headaches or seizures.

• Special educational services. These can help with any learning problems.

• Supportive care. This may include speech, physical, or occupational therapy.

What are the long-term concerns?

NF1 is a lifelong condition. But your child can learn ways to manage symptoms and be as active and independent as possible. Regular visits to the healthcare provider are advised to check your child’s health and to do routine testing. In rare cases, tumors become cancer (malignant). If this happens, your child may need other treatments, such as chemotherapy or radiation.