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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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 1131 free, full-text research articles on human participants. First 3 results:

Microsurgery for patients diagnosed with neurofibromatosis type 2 complicated by vestibular schwannomas: Clinical experience and strategy for treatments.
 

Author(s): Li-Hua Chen, Hong-Tian Zhang, Ru-Xiang Xu, Li Zhang, Wen-De Li, Kai Sun

Journal: Medicine (Baltimore). 2018 Apr;97(17):e0270.

 

Most patients diagnosed with neurofibromatosis type 2 (NF2) have bilateral vestibular schwannomas (VS). Through reviewing surgical method and clinical outcomes, we tried to find out a strategy for treatments in NF2 patients with VS.We retrospectively reviewed patients diagnosed pathological ...

Last Updated: 31 Dec 1969

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Endovascular management of renal artery aneurysms induced by neurofibromatosis type 1: A case report.
 

Author(s): Bihui Zhang, Yinghua Zou, Min Yang, Guochen Niu

Journal: Medicine (Baltimore). 2017 Nov;96(47):e8858.

 

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults.

Last Updated: 31 Dec 1969

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Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient.
 

Author(s): Natália Battisti Serafini, Cássio Battisti Serafini, Alanna Santoro Vinhas, Marcio Barbosa Godinho

Journal: An Bras Dermatol. ;92(6):870-873.

 

Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, ...

Last Updated: 31 Dec 1969

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

Cancer of the Peripheral Nerve in Neurofibromatosis Type 1.
 

Author(s): Verena Staedtke, Ren-Yuan Bai, Jaishri O'Neill Blakeley

Journal: Neurotherapeutics. 2017 04;14(2):298-306.

 

The RASopathy neurofibromatosis 1 is an autosomal dominant hereditary cancer syndrome that represents a major risk for the development of malignancies, particularly malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are unique sarcomas that originate from the peripheral nerve ...

Last Updated: 31 Dec 1969

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[A giant hyperostotic parasagittal meningioma in a child with neurofibromatosis type II (a case report and literature review)].
 

Author(s): A N Savateev, A N Konovalov, S K Gorelyshev, L A Satanin, E A Khukhlaeva, L V Shishkina, V I Ozerova, E F Valiakhmetova, O A Medvedeva

Journal: Zh Vopr Neirokhir Im N N Burdenko. 2016 ;80(6):66-73.

 

Large parasagittal meningiomas, in particular hyperostotic ones, in children are rare and problematic in the differential diagnosis. The literature reports only single clinical cases related to this issue; opinions about the indications, surgical treatment options, and prognosis are ...

Last Updated: 31 Dec 1969

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[Neurofibromatosis type 2 in childhood: a clinical characterization].
 

Author(s): C M Hinojosa-Mateo, J A Reche-Sainz, A Hernandez-Nunez, M Ramos-Lopez, A Arpa-Fernandez, D Natera-de Benito

Journal: Rev Neurol. 2017 Feb;64(3):119-124.

 

Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities.

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Neurofibromatosis-associated Tumor Biobank
 

Status: Not yet recruiting

Condition Summary: Neurofibromatoses

 

Last Updated: 29 Nov 2017

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Non-invasive Stimulation in Neurofibromatosis Type 1
 

Status: Recruiting

Condition Summary: Neurofibromatosis 1

 

Last Updated: 30 Apr 2018

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Vision, Attention and Reading in Neurofibromatosis Type 1 (NF1) Children
 

Status: Not yet recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 16 May 2018

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