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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might neurofibromatosis type 1 (NF1) be treated?

There is currently no way to prevent or stop the growth of neurofibromas associated with NF1. Those that are disfiguring or irritating may be surgically removed. Treatment for malignant neurofibromas (occurring in 3 to 5 percent of cases) may also include radiation therapy or chemotherapy.[1][2] Optic gliomas that threaten vision may be reduced in size by surgery or chemotherapy in some cases. Surgery can also correct some of the bone malformations (such as scoliosis) associated with NF1.[1][2]
Last updated: 6/6/2012

References
  1. 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.
  2. JM Friedman. Neurofibromatosis 1. GeneReviews. May 3, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1109/. Accessed 2/28/2014.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Neurofibromatosis type 1. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.