Neurofibromatosis

Common Name(s)

Neurofibromatosis

Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bones abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, weakness, and balance problems. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and medicines.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis" for support, advocacy or research.

Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

Last Updated: 4 Feb 2013

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Neurofibromatosis Midwest

Neurofibromatosis Midwest provides hope to those with neurofibromatosis by funding clinical trials and ongoing research for a cure. We are dedicated to providing comfort through emotional support, education and improved clinical care.

Last Updated: 13 Feb 2013

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

Last Updated: 5 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Texas Neurofibromatosis Foundation

We are committed to meeting the needs of people challenged with neurofibromatosis by providing care, comfort, support, information, education, funding and other resources for its treatment, prevention and cure.

Last Updated: 3 Jan 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis" for support, advocacy or research.

Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

http://www.littlesttumor.org

Last Updated: 4 Feb 2013

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Neurofibromatosis Midwest

Neurofibromatosis Midwest provides hope to those with neurofibromatosis by funding clinical trials and ongoing research for a cure. We are dedicated to providing comfort through emotional support, education and improved clinical care.

http://www.nfmidwest.org

Last Updated: 13 Feb 2013

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

http://www.nfincne.org

Last Updated: 5 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Texas Neurofibromatosis Foundation

We are committed to meeting the needs of people challenged with neurofibromatosis by providing care, comfort, support, information, education, funding and other resources for its treatment, prevention and cure.

http://www.texasnf.org

Last Updated: 3 Jan 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neurofibromatosis" returned 997 free, full-text research articles on human participants. First 3 results:

[Neurofibromatosis complicated by acute lymphoblastic leukemia in a boy].
 

Author(s): Yuan-Yuan Wan, Le-Ping Zhng, Jun Wu, Bin Wang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Oct;17(10):1140-1.

 

Last Updated: 20 Oct 2015

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[Magnetic resonance imaging study on undefined bright objects in the brain tissue of children with neurofibromatosis type 1].
 

Author(s): Wei-Hua Liao, Meng-Hui Liu, Jian-Ling Liu, Chang-Qing Chen, Wei Shi, Wu Xing, Fang-Fang Xie, Xiao-Yi Wang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Aug;17(8):873-6.

 

Last Updated: 20 Aug 2015

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Primary meningeal melanoma with cerebrospinal fluid dissemination mimicking neurofibromatosis type 2.
 

Author(s): Marcos Rosa Júnior, Luciene Lage da Motta, Fabrizio Scardino

Journal: Arq Neuropsiquiatr. 2015 Jul;73(7):636-7.

 

Last Updated: 23 Jul 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neurofibromatosis" returned 100 free, full-text review articles on human participants. First 3 results:

Targeted therapy for hereditary cancer syndromes: neurofibromatosis type 1, neurofibromatosis type 2, and Gorlin syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2014 Dec;18(101):323-30.

 

Hereditary cancer syndromes are well known in the oncology community, typically affecting children, adolescents, and young adults and thereby resulting in great cumulative morbidity and mortality. These syndromes often lag behind their de novo counterparts in the development of approved ...

Last Updated: 31 Dec 2014

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Neurofibromatosis-related tumors: emerging biology and therapies.
 

Author(s): Matthias A Karajannis, Rosalie E Ferner

Journal: Curr. Opin. Pediatr.. 2015 Feb;27(1):26-33.

 

Over the past decade, substantial insight into the biological function of the tumor suppressors neurofibromin (NF1) and Merlin (NF2) has been gained. The purpose of this review is to highlight some of the major advances in our understanding of the biology of neurofibromatosis type ...

Last Updated: 7 Jan 2015

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Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
 

Author(s): Anna Abramowicz, Monika Gos

Journal: Dev Period Med. ;18(3):297-306.

 

Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling. In 50% ...

Last Updated: 3 Sep 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neurofibromatosis (NF) Registry Portal
 

Status: Recruiting

Condition Summary: Neurofibromatosis 1; Neurofibromatosis 2; Schwannomatosis

 

Last Updated: 26 Jan 2016

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Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 (16 Years +)
 

Status: Recruiting

Condition Summary: NF1; Neurofibromatosis; Plexiform Neurofibromas

 

Last Updated: 24 Aug 2015

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Neurofibromatosis Type 1 Patient Registry
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 7 Dec 2015

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