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Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 1

Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
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Your Question

My infant son has 5 cafe au lait spots on his trunk and left leg. He was adopted, so I don't know about family history. Is there a genetic test which can help to rule-out neurofibromatosis?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the signs and symptoms of neurofibromatosis type 1 (NF1)?

Beginning in early childhood, almost all people with NF1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.[1]

The eyes can also be affected by NF1. During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.[1]

Most adults with NF1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with NF1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with NF1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).[1]

Additional signs and symptoms of NF1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with NF1 have normal intelligence, learning disabilities and attention deficit hyperactivity disorder (ADHD) occur frequently in affected individuals.[1]

Last updated: 6/6/2012

How is neurofibromatosis type 1 diagnosed?

The diagnosis of NF1 is usually made after a clinical exam and does not require laboratory tests.[2] To make a diagnosis, a doctor looks for two or more of the following features:[3]

    • Six or more light brown spots on the skin (“cafe-au-lait” spots), measuring more than 5 millimeters across in children, or more than 15 millimeters across in adolescents and adults
    • Two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves)
    • Freckling in the area of the armpit or the groin
    • Two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas)
    • A tumor on the optic nerve (optic glioma)
    • Abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin)
    • A parent, sibling, or child has been diagnosed with NF1

Symptoms such as café-au-lait spots, neurofibromas, Lisch nodules, and freckling are often seen at birth or shortly afterwards, and almost always by the time a child is 10 years old. Because many features do not develop until a person is older, it can take several years to make a diagnosis.[3]

Last updated: 6/6/2012

Is there a specific test that can rule out neurofibromatosis type 1?

Although it is not usually needed for diagnosis, genetic testing of the NF1 gene is available.[2] 

The Genetic Testing Registry  provides more information about the genetic tests available for neurofibromatosis type 1.

Last updated: 6/8/2012