Neurofibromatosis

Common Name(s)

Neurofibromatosis

Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin.  There are three types of neurofibromatosis:

Neurofibromatosis type 1 (NF1) causes skin changes and deformed bones and usually starts at birth. Neurofibromatosis type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years. Schwannomatosis causes intense pain. It is the rarest type.

Neurofibromatosis can either be an inherited disorder or the product of a gene mutation. Both NF1 and NF2 are caused by two separate abnormal genes and may be inherited from parents who have NF or may be the result of a mutation in the sperm or egg cells. NF is considered an autosomal dominant disorder.The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment 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.

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CNS Foundation

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

Last Updated: 12 Oct 2013

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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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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.

Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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

A case of late-onset segmental neurofibromatosis.
 

Author(s): Heather McLimore, Cort McCaughey, Erin Vanness

Journal: WMJ. 2014 Apr;113(2):72-3.

 

Segmental neurofibromatosis (NF5) is a rare variant of neurofibromatosis. To our knowledge, there have been few reports of cases presenting later in life. The recognition of NF5 is important, as there have been reports of paraneoplastic manifestations and transmission to offspring. ...

Last Updated: 9 Jun 2014

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[Myxedema coma in a patient with type 1 neurofibromatosis: rare association].
 

Author(s): Denise Tieko Sasazawa, Daniela Miti Tsukumo, Cristina Alba Lalli

Journal: Arq Bras Endocrinol Metabol. 2013 Dec;57(9):743-7.

 

Myxedema coma, a rare but fatal emergency, is an extreme expression of hypothyroidism. We describe a 51-year-old male patient who has discontinued hypothyroidism treatment 10 months earlier and developed lethargy, edema, and cold intolerance symptoms. He also had a previous diagnosis ...

Last Updated: 9 Jan 2014

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Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.
 

Author(s): Inga-Marie Schaefer, Philipp Ströbel, Aung Thiha, Jan Martin Sohns, Christian Mühlfeld, Stefan Küffer, Gunther Felmerer, Adam Stepniewski, Silke Pauli, Abbas Agaimy

Journal:

 

Perineurioma is a rare benign peripheral nerve sheath tumor featuring perineurial differentiation. Perineurioma occurs sporadically with only one reported case in the setting of neurofibromatosis type 1 (NF-1). We present a 6.7-cm soft tissue perineurioma of the lower leg in a 51-year-old ...

Last Updated: 2 Dec 2013

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

[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].
 

Author(s): Barbara Bikowska-Opalach, Teresa Jackowska

Journal: Med Wieku Rozwoj. ;17(4):334-40.

 

Neurofibromatosis type 1 (NF1) called also von Recklinghausen's disease is an autosomal dominant genetic disorder with a  complex clinical course. Clinical signs and symptoms concern mainly skin (with pigmentation abnormalities- café au lait macules, axillary/groin freckling and ...

Last Updated: 12 Feb 2014

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Gastrointestinal stromal tumors associated with neurofibromatosis 1: a single centre experience and systematic review of the literature including 252 cases.
 

Author(s): Pier Federico Salvi, Laura Lorenzon, Salvatore Caterino, Laura Antolino, Maria Serena Antonelli, Genoveffa Balducci

Journal: Int J Surg Oncol. 2013 ;2013():398570.

 

The objectives of this study were (a) to report our experience regarding the association between neurofibromatosis type 1 (NF1) and gastrointestinal stromal tumors (GISTs); (b) to provide a systematic review of the literature in this field; and (c) to compare the features of NF1-associated ...

Last Updated: 3 Jan 2014

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Optimizing biologically targeted clinical trials for neurofibromatosis.
 

Author(s): David H Gutmann, Jaishri O Blakeley, Bruce R Korf, Roger J Packer

Journal: Expert Opin Investig Drugs. 2013 Apr;22(4):443-62.

 

The neurofibromatoses (neurofibromatosis type 1, NF1 and neurofibromatosis type 2, NF2) comprise the most common inherited conditions in which affected children and adults develop tumors of the central and peripheral nervous system. In this review, the authors discuss how the establishment ...

Last Updated: 14 Mar 2013

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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: 19 Jun 2013

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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: 19 Aug 2014

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Neurofibromatosis Type 1 Patient Registry
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 25 Nov 2013

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