Neurofibromatosis

Common Name(s)

Neurofibromatosis

Neurofibromatosis (NF) is a group of genetic disorders that are caused by changes (mutations) in genes that help control cell growth. All forms of NF cause noncancerous (benign) tumors to develop along nerves, in the brain, or along the spinal cord. In some cases, the tumors can become cancerous (malignant). There are two main types of NF, neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). The type and severity of NF symptoms depends on the type of NF a person has and can include changes to skin color (pigment), benign tumors under the skin (neurofibromas), changes to the colored part of the eye (Lisch nodules), high blood pressure, delays in development, and hearing loss.

NF1 is caused by mutations in the NF1 gene while NF2 is caused by mutations in the NF2 gene. Both genes are tumor suppressors for nerve cells, which means they help control nerve cell growth and division. A mutation in either gene leads to uncontrolled nerve cell growth, which causes tumor development in nerve tissue throughout the body. Both conditions are inherited in an autosomal dominant way, which means a mutation in one of two copies of the gene a person has is enough to cause the condition. Each child of a person with NF has a 50% of also having NF.

There are clinical criteria that doctors use to diagnose NF. The condition is usually diagnosed by a doctor who is familiar with skin conditions (dermatologist) or genetic conditions (geneticist). Genetic testing is used to confirm the clinical diagnosis. Although NF does not have a cure, management of many of the symptoms is possible. Treatment usually involves surveillance of tumor growth in the body and, if necessary, surgery to remove tumors that are causing severe symptoms. If your child has been diagnosed with NF, talk with their doctor to determine a treatment plan. More information and support is available through NF support groups.

Source: Advocacy organizations associated with the condition.

 

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 1071 free, full-text research articles on human participants. First 3 results:

Face Transplant in an Advanced Neurofibromatosis Type 1 Patient.
 

Author(s): Łukasz Krakowczyk, Adam Maciejewski, Cezary Szymczyk, Krzysztof Oleś, Stanisław Półtorak

Journal:

 

BACKGROUND The human face is a one-of-a-kind structure with unique morphology, complexity, and function, in which different subunits are not even similar to other parts of the body. Therefore, extended complex deficits of the face are usually difficult to reconstruct, and autologous ...

Last Updated: 31 Jan 2017

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Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.
 

Author(s): Eva Dombi, Andrea Baldwin, Leigh J Marcus, Michael J Fisher, Brian Weiss, AeRang Kim, Patricia Whitcomb, Staci Martin, Lindsey E Aschbacher-Smith, Tilat A Rizvi, Jianqiang Wu, Rachel Ershler, Pamela Wolters, Janet Therrien, John Glod, Jean B Belasco, Elizabeth Schorry, Alessandra Brofferio, Amy J Starosta, Andrea Gillespie, Austin L Doyle, Nancy Ratner, Brigitte C Widemann

Journal: N. Engl. J. Med.. 2016 12;375(26):2550-2560.

 

Background Effective medical therapies are lacking for the treatment of neurofibromatosis type 1-related plexiform neurofibromas, which are characterized by elevated RAS-mitogen-activated protein kinase (MAPK) signaling. Methods We conducted a phase 1 trial of selumetinib (AZD6244 ...

Last Updated: 28 Dec 2016

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A Case of a Patient with Neurofibromatosis Type I Presenting with Abdominal Pain.
 

Author(s): Shi Yuan Wang, Tien Jin Tan

Journal: Ann. Acad. Med. Singap.. 2016 Nov;45(11):524-526.

 

Last Updated: 6 Dec 2016

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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 114 free, full-text review articles on human participants. First 3 results:

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas.
 

Author(s): Jelte Helfferich, Ronald Nijmeijer, Oebele F Brouwer, Maartje Boon, Annemarie Fock, Eelco W Hoving, Lisethe Meijer, Wilfred F A den Dunnen, Eveline S J M de Bont

Journal: Crit. Rev. Oncol. Hematol.. 2016 Aug;104():30-41.

 

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, associated with a variable clinical phenotype including café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas and distinctive bony lesions. NF1 is caused by a mutation in ...

Last Updated: 12 Jul 2016

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[Consanguineous marriage and morbi-mortality, short literature review based on an exceptional association: Usher syndrome and Von Recklinghausen neurofibromatosis].
 

Author(s): Pépin-Williams Atipo-Tsiba

Journal:

 

Usher syndrome is defined by the association of a progressive or non-progressive congenital sensorineural hearing loss with variable severity and a gradually blinding pigmentary retinopathy. Von Recklinghausen neurofibromatosis or Neurofibromatosis type 1 is the major clinically form ...

Last Updated: 27 May 2016

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Hearing Restoration in Neurofibromatosis Type II Patients.
 

Author(s): Jeon Mi Lee, Jin Woo Chang, Jae Young Choi, Won Seok Chang, In Seok Moon

Journal: Yonsei Med. J.. 2016 Jul;57(4):817-23.

 

Patients with neurofibromatosis type II will eventually succumb to bilateral deafness. For patients with hearing loss, modern medical science technology can provide efficient hearing restoration through a number of various methods. In this article, several hearing restoration methods ...

Last Updated: 18 May 2016

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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 Type 1 Patient Registry
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 31 Oct 2016

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Resiliency Training for Adolescent Neurofibromatosis Patients Via Videoconferencing With Skype
 

Status: Recruiting

Condition Summary: Neurofibromatoses

 

Last Updated: 30 Jun 2016

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Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 16 Feb 2017

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