Neurofibromatosis type 1

What is neurofibromatosis type 1? How is it diagnosed?

Neurofibromatosis (nur-oh-fie-broe-mah- To diagnose NF1, the doctor will do a toe-sis) type 1 (also called NF1) is a physical exam. Two of the following must condition that causes skin changes as well as be found in order to decide that someone has tumors along the nerves in the body. The NF1: tumors are usually not cancer. • at least 6 café-au-lait spots (brown

birthmarks). These are often seen on the NF1 affects one in every 2,500 babies. skin in young children, and may get About 120,000 people in the United States larger with age. have it. NF1 affects all races and both sexes equally. • freckles in the armpit or groin.

• two or more small neurofibromas - What causes NF1? lumps on or under the skin. They may appear just before puberty. NF1 is a genetic condition. This means it is caused by a mutation (change) in the NF1 • at least one plexiform neurofibroma - gene. It is present at birth, and nothing can larger, deeper tumors around the nerves. prevent it. See the education sheet, “Genetic Sometimes they cannot be seen or felt. conditions.” They usually don’t cause a problem, but a few may develop into cancer. About half of all people with NF1 have • two or more iris Lisch nodules - spots on inherited the gene that causes it from a the colored part of the eye. parent. The other half have it because of a new change in the gene. There is a blood • optic pathway tumor or optic glioma - test to identify genetic changes that can tumor or thickening of the optic nerve in cause NF1. See the education sheet, about 10 to 15% of affected children. “Genetic conditions.” • tibial dysplasia - curved lower leg bone.

When a person with NF1 has a child, there is • sphenoid dysplasia - abnormally shaped a 50% chance that the baby will receive the bone around the eye. NF1 gene. • first degree relative (mother, father, bother, sister, son, or daughter) who has NF1.

Some of the signs of NF1 may not show up until later in life. This means that NF1 may not be diagnosed until later in life, especially if no one else in the family has it.

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Can other problems happen? Problem Treatment The following problems are more common ADHD Medicine and non- in NF1 and need to be watched for and medicine therapies treated if necessary: learning disability special education • learning disability - about a 50 % chance scoliosis (curved early care by an • attention deficit disorder (ADD/ADHD) spine) orthopaedist (a doctor who • larger head size than average curved lower leg specializes in bones) • shorter than average neurofibromas if painful or irritating, they can be removed • early puberty plexiform watch carefully; if too • high blood pressure neurofibroma large, or becomes cancer, • scoliosis (curved spine) surgery or chemotherapy • headaches may be needed optic pathway regular eye exams; rarely What is the treatment? tumor need chemotherapy

There is no way to predict what problems a How should I care for my child? person with NF1 will have, or how serious those problems will be. The features of NF1 All people with NF1 should be seen yearly can be very different among people in the by a doctor or nurse practitioner familiar same family. Most people with NF1 do not with the condition, as well as an have many of the health problems listed in ophthalmologist (eye doctor). Referrals to this sheet, and live long, healthy lives. other specialists may be needed.

There is no cure. Treatment depends on the When should I call the clinic? problems the person has. • any new and persistent pain Café-au-lait spots and freckles are not a • concerns about vision or headaches problem and need no treatment. • learning or behavior concerns

Children and adults should have their blood Questions? pressure checked regularly. High blood pressure may be caused by these rare, but This sheet is not specific to your child, but treatable conditions: provides general information. If you have • narrowing of the artery to the kidney any questions, please call your clinic. (renal artery stenosis) For more information about • tumor of the adrenal gland neurofibromatosis, visit: (pheochromocytoma) • The Children’s Tumor Foundation Children’s Hospitals and Clinics of Minnesota www.CTF.org Patient/Family Education • Neurofibromatosis Inc., Minnesota 2525 Chicago Avenue South Minneapolis, MN 55404 www.nfinc-mn.org 12/07 ©Copyright

Other treatments may include:

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