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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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 1076 free, full-text research articles on human participants. First 3 results:

Surgical Treatment of Dystrophic Spinal Curves Caused by Neurofibromatosis Type 1: A Retrospective Study of 26 Patients.
 

Author(s): Xiong Zhao, Jun Li, Lei Shi, Liu Yang, Zi-Xiang Wu, Da-Wei Zhang, Wei Lei, Qiang Jie

Journal: Medicine (Baltimore). 2016 Apr;95(14):e3292.

 

Dystrophic scoliosis in neurofibromatosis type 1 (NF-1) is difficult to treat. The purpose of this study was to review the clinical and radiological outcome of surgical treatment of dystrophic spinal curves in NF-1, for analyzing its efficacy, safety, and possible complications.This ...

Last Updated: 9 Apr 2016

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Metabolic Tumour Burden Measured by 18F-FDG PET/CT Predicts Malignant Transformation in Patients with Neurofibromatosis Type-1.
 

Author(s): Axel Van Der Gucht, Ouidad Zehou, Soraya Djelbani-Ahmed, Laurence Valeyrie-Allanore, Nicolas Ortonne, Pierre Brugières, Pierre Wolkenstein, Alain Luciani, Alain Rahmouni, Emilie Sbidian, Emmanuel Itti

Journal:

 

To investigate the diagnostic and prognostic performances of 18F-FDG PET/CT measures of metabolic tumour burden in patients with neurofibromatosis type-1 (NF1), suspect of malignant transformation.

Last Updated: 18 Mar 2016

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Peripheral Attentional Targets under Covert Attention Lead to Paradoxically Enhanced Alpha Desynchronization in Neurofibromatosis Type 1.
 

Author(s): Gilberto Silva, Maria J Ribeiro, Gabriel N Costa, Inês Violante, Fabiana Ramos, Jorge Saraiva, Miguel Castelo-Branco

Journal:

 

The limited capacity of the human brain to process the full extent of visual information reaching the visual cortex requires the recruitment of mechanisms of information selection through attention. Neurofibromatosis type-1 (NF1) is a neurodevelopmental disease often exhibiting attentional ...

Last Updated: 17 Feb 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 112 free, full-text review articles on human participants. First 3 results:

[Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis].
 

Author(s): Anna Abramowicz, Monika Gos

Journal:

 

Neurofibromatosis type I (NF1) is multisystemic disease characterized by pigmentary skin changes, increased susceptibility to tumor formation, neurological deficits and skeletal defects. The disease is a monogenic, autosomal dominant disorder, caused by the presence of mutations in ...

Last Updated: 16 Dec 2015

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Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature.
 

Author(s): Mirjana Kocova, Elena Kochova, Elena Sukarova-Angelovska

Journal:

 

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder with an extremely variable phenotype. In childhood NF1 can be associated with optic glioma and central precocious puberty; the latter is more common when the optic chiasm is affected. The mutational spectrum ...

Last Updated: 15 Dec 2015

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[Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1)].
 

Author(s): Martha Gómez, Oriana Batista

Journal: Rev Med Chil. 2015 Oct;143(10):1320-30.

 

Neurofibromatosis type 1 (NF1), is a haploinsufficient and multisystemic disease, caused by inherited or sporadic mutations in the NF1 gene. Its incidence is one in 2,500 to 3,000 individuals, it has an autosomal dominant pattern of inheritance, high clinical variability, complete ...

Last Updated: 4 Dec 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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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Natural History Study of Patients With Neurofibromatosis Type I
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1; Malignant Peripheral Nerve Sheath Tumor; Plexiform Neurofibroma; Optic Glioma; Neurofibroma

 

Last Updated: 27 Sep 2016

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Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Dermal Neurofibroma
 

Status: Not yet recruiting

Condition Summary: Appearance Distress; Bothered by Itching Skin; Cafe Au Lait Spot; Cutaneous Neurofibroma; Disfigurement; Dysplasia; Lisch Nodule; Neurofibromatosis Type 1; NF1 Gene Mutation; Optic Nerve Glioma

 

Last Updated: 10 Aug 2016

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