Neurofibromatosis

Common Name(s)

Neurofibromatosis

Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bones abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, weakness, and balance problems. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and 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.

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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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 1042 free, full-text research articles on human participants. First 3 results:

Neurofibromatosis type 1 and cardiac manifestations.
 

Author(s): Faruk İncecik, Özlem M Hergüner, Sevcan Alınç Erdem, Şakir Altunbaşak

Journal: Turk Kardiyol Dern Ars. 2015 Dec;43(8):714-6.

 

Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this study was to evaluate cardiac abnormalities in patients with NF1.

Last Updated: 31 Dec 2015

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A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: a case report.
 

Author(s): Haijun Li, Ting Liu, Xia Chen, Lin Xie

Journal:

 

Neurofibromatosis 1 (NF1) is a common disease that mainly affects the skin and peripheral nervous system, and is characterized by bony dysplasia. Primary congenital glaucoma (PCG) is a sight-threatening disease that can manifest as a prodrome of NF1, especially in newborn babies. ...

Last Updated: 30 Oct 2015

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[Neurofibromatosis complicated by acute lymphoblastic leukemia in a boy].
 

Author(s): Yuan-Yuan Wan, Le-Ping Zhng, Jun Wu, Bin Wang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Oct;17(10):1140-1.

 

Last Updated: 20 Oct 2015

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

Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors.
 

Author(s): J Salamon, V F Mautner, G Adam, T Derlin

Journal: Rofo. 2015 Dec;187(12):1084-92.

 

Neurofibromatosis type 1 (NF1) is a neurogenetic disorder. Individuals with NF1 may develop a variety of benign and malignant tumors of which peripheral nerve sheath tumors represent the most frequent entity. Plexiform neurofibromas may demonstrate a locally destructive growth pattern, ...

Last Updated: 14 Nov 2015

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Skeletal muscle and motor deficits in Neurofibromatosis Type 1.
 

Author(s): M A Summers, K G Quinlan, J M Payne, D G Little, K N North, A Schindeler

Journal: J Musculoskelet Neuronal Interact. 2015 Jun;15(2):161-70.

 

Neurofibromatosis Type 1 (NF1) is a genetic neurocutaneous disorder with multisystem manifestations, including a predisposition to tumor formation and bone dysplasias. Studies over the last decade have shown that NF1 can also be associated with significant motor deficits, such as ...

Last Updated: 2 Jun 2015

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Breast cancer associated with neurofibromatosis type 1: a case series and review of the literature.
 

Author(s): Jihane Khalil, Mohamed Afif, Hanan Elkacemi, Meryem Benoulaid, Tayeb Kebdani, Noureddine Benjaafar

Journal:

 

Neurofibromatosis type 1, also known as Von Recklinghausen's disease, is a rare neuroectodermal disease that mainly affects the skin and the nervous system. Patients with neurofibromatosis type 1 have a higher risk of developing various types of cancers, especially tumors derived ...

Last Updated: 19 Apr 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: 26 Feb 2016

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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: 8 Mar 2016

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