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Diseases

Genetic and Rare Diseases Information Center (GARD)

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.

Your Question

My son has what the doctor is calling fibromas on his legs that have been growing for about 2 years. Both legs have huge tumors on them and growing all the time. My son has been diagnosed with neurofibromatosis.  My understanding is that there is no cure?

Our Answer

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

How might neurofibromatosis type 1 be treated?

The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1.[1][2]

GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource.
Last updated: 7/19/2015

What is the long-term outlook for people with neurofibromatosis type 1?

The long-term outlook (prognosis) for people with neurofibromatosis type 1 (NF1) varies based on the severity of the condition and the signs and symptoms present in each person. Although people with NF1 can live relatively long and healthy lives, the median life expectancy is approximately eight years lower than in the general population.[1] The most common causes of mortality in people with NF1 are hypertension, symptoms related to spinal cord tumors, and malignancy. Fortunately, early detection and prompt attention to complications associated with NF1, including tumors and cancers can improve quality of life and survival of the condition.[3][2]
Last updated: 7/19/2015

How can I learn about research involving neurofibromatosis type 1?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There are currently several clinical trials enrolling individuals with neurofibromatosis type 1. To find these trials, click on the link above. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study's contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 1-800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to contact PRPL and provide your telephone number in full, including area code and international dialing prefix.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 1-800-411-1222
Fax: 301-480-9793
E-mail: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov

You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
Last updated: 7/20/2015

References
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.