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

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.
 

Author(s): Izabela Laczmańska, Małgorzata Szczepaniak, Aleksandra Jakubiak, Agnieszka Stembalska

Journal: Adv Clin Exp Med. ;23(4):517-21.

 

Neurofibromatosis type I (NF1, Recklinghausen's disease) is an autosomal dominant disorder characterized by the following clinical features: café au lait spots, neurofibromas, Lisch nodules, freckling of the axillary and inguinal regions, optic nerve gliomas, bone dysplasia and increased ...

Last Updated: 29 Aug 2014

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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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Thoracoscopic plication for a huge thoracic meningocele in a patient with neurofibromatosis.
 

Author(s): Heng-Chung Chen, Ping-Hsien Chang, Shang-Wun Jhang, Bing-Yen Wang

Journal:

 

Intrathoracic meningoceles associated with neurofibromatosis type I are rare, and the optimal treatment is still unknown. Herein, we present the case of a 48-year-old Asian female with a huge thoracic meningocele associated with cutaneous neurofibromatosis type I and kyphoscoliosis ...

Last Updated: 4 Jun 2014

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

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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Renal artery stenosis due to neurofibromatosis type 1: case report and literature review.
 

Author(s): Lian Duan, Kai Feng, Anli Tong, Zhiyong Liang

Journal:

 

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant disorder. The most common vascular abnormality in patients with NF1 is bilateral or unilateral renal artery stenosis.

Last Updated: 2 Apr 2014

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[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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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

Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype
 

Status: Recruiting

Condition Summary: Neurofibromatosis; Neurofibromatosis I; Neurofibromatosis 2; Schwannomatosis

 

Last Updated: 19 Nov 2014

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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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