Neurofibromatosis type 1
- Recklinghausen's disease
- Type 1 neurofibromatosis
- Von Recklinghausen disease
Tests & Diagnosis
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- 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.
- JM Friedman. Neurofibromatosis 1. GeneReviews. May 3, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1109/. Accessed 2/28/2014.
- Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke Website. January 13, 2012; http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed 10/2/2013.