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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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Tests & Diagnosis

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How is neurofibromatosis type 1 diagnosed?

The diagnosis of NF1 is usually made after a clinical exam and does not require laboratory tests.[1] To make a diagnosis, a doctor looks for two or more of the following features:[2]

    • 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.[2]

Last updated: 6/6/2012

  1. JM Friedman. Neurofibromatosis 1. GeneReviews. May 3, 2012; Accessed 2/28/2014.
  2. Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke Website. January 13, 2012; Accessed 10/2/2013.