The most common form of neurofibromatosis (NF) is NF-1. It is sometimes referred to as peripheral neurofibromatosis or von Recklinghausen’s disease. People with NF-1 generally have brown oval or circular spots on the skin called, café-au-lait spots, and freckles under the arm or in the groin area. Benign soft tumors or lumps on or below the skin are called neurofibroma; brownish-red spots in the iris (the colored part of the eye) are called Lisch nodules. Both are present in most people.

NF-1 frequently causes learning difficulties in children. It may also affect their physical growth. In addition, tumors may form along nerves anywhere in the body.

Some signs of NF-1 are usually visible within the first year of life. Other signs of NF-1 may develop as people get older. For example, Lisch nodules of the iris are unusual in young children but commonly develop in teenagers and adults. Neurofibromas frequently appear or grow during the hormonal changes that occur in teenage years and during pregnancy. It is important to remember that while the problems caused by NF-1 can be serious, this disorder usually does not keep people from living a normal and productive life.

Some people with NF-1 will only have café-au-lait spots and neurofibroma, while others may have more difficulties. It is impossible to predict what kinds of problems an individual will have. No two people will be affected in exactly the same way, even within the same family.

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 NF

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
  • Monitor height, weight and sexual development
  • Discuss self-esteem and relationships with friends and classmates
  • Set aside time to talk about NF and how to respond to questions by friends
  • Discuss inheritance of NF and likelihood of having a child with NF

Ages 15 to 20 years:

  • Monitor changes in appearance of neurofibroma
  • Continue to talk about NF, relationships with friends and self-esteem
  • Discuss inheritance of NF and likelihood of having a child with NF

While NF-1 can affect almost any organ in the body, many people have only a few difficulties. As many as 40 to 60 percent of children have short attention span, hyperactivity or some difficulty learning in school. Problems with visual perception are common and may make spelling and math more difficult. Children with these problems can be helped to be successful in school. Headaches and difficulties with hearing are also common in NF-1 and may affect schoolwork.

NF-1 frequently affects growth. People with NF-1 may be shorter or have slightly larger heads than the average person. NF-1 may also affect the growth of bones. Some will have actual shrinkage of a bone, bending or fracture of a long bone that won’t heal, called pseudarthrosis. Others may have curvature of the spine, called scoliosis.

NF-1 also causes tumors to form in different parts of the body. Small tumors on or below the surface of the skin, called neurofibroma, are present in most people. Some people with NF-1 have tumors or growths that involve the skin and deeper tissues, including the nerves, called plexiform neurofibroma. These growths can sometimes be large and change the normal shape of a part of the body or can affect internal organs. Occasionally, cancer can form in a plexiform neurofibroma.

NF-1 may also affect the brain. Bright spots are frequently seen on brain scans. The nerves to the eye may be abnormally large, called optic gloom. In a small number of people, NF-1 causes brain tumors.

Having NF-1 means there will be changes in your body which nobody can predict. Because doctors cannot tell in advance what will happen to each person and because many of the problems are rare, it is important for you to learn all that you can about NF.

People with NF-1 will need regular physical exams to check their vision, blood pressure and spine. Sudden changes in the size of a neurofibroma, pain or weakness should be brought to your doctor’s attention immediately.

In young children, special attention should be given to growth, hearing, vision, development, long bones and the spine. In addition, parents should ask teachers whether their child is having trouble with schoolwork and if a special learning evaluation is needed.

In older children and young adults, plexiform neurofibromas need to be checked carefully.

Special scans of the brain, eyes and spine are often helpful in NF-1.

Because NF-1 causes spots and small tumors on the skin that can be seen, people with NF-1 may have to be braver than other people. Children with NF are sometimes isolated, rejected or teased. If this occurs, the best thing to do is to talk about NF with your family or the child’s friends and teachers.

If you are a parent of a child with NF, you should realize that your child might be frightened or angry about changes in his or her body. It is not helpful for you to pretend there is no problem. 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 are dealing emotionally with their disorder. Set aside time to talk about self-esteem and relationships with friends.

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To speak to someone directly, please call 1-773-702-2123. If you have symptoms of an urgent nature, please call your doctor or go to the emergency room immediately.

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Pediatric Neurology and Neurosurgery