Schwannomatosis

Common Name(s)

Schwannomatosis

Schwannomatosis is a rare form of neurofibromatosis that is genetically and clinically distinct from NF1 and NF2.  Inherited forms of the disorder account for only 15 percent of all cases.  Researchers have identified a mutation of the SMARCB1/INI1 gene that is associated with the familial form of the disease but donĂ•t fully understand what causes the intense pain that characterizes this disorder. In addition to severe chronic pain, other neurological symptoms such as numbness, tingling, or weakness in the fingers and toes may occur. The pain associated with schwannomatosis may be managed with surgery and medication.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schwannomatosis" for support, advocacy or research.

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Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

Last Updated: 14 Jan 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

Last Updated: 22 Dec 2012

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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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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 "Schwannomatosis" for support, advocacy or research.

Logo
Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

https://www.ctf.org

Last Updated: 14 Jan 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

http://www.nfmidatlantic.org

Last Updated: 22 Dec 2012

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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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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 "Schwannomatosis" returned 16 free, full-text research articles on human participants. First 3 results:

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
 

Author(s): Brigitte C Widemann, Maria T Acosta, Sylvia Ammoun, Allan J Belzberg, Andre Bernards, Jaishri Blakeley, Antony Bretscher, Karen Cichowski, D Wade Clapp, Eva Dombi, Gareth D Evans, Rosalie Ferner, Cristina Fernandez-Valle, Michael J Fisher, Marco Giovannini, David H Gutmann, C Oliver Hanemann, Robert Hennigan, Susan Huson, David Ingram, Joe Kissil, Bruce R Korf, Eric Legius, Roger J Packer, Andrea I McClatchey, Frank McCormick, Kathryn North, Minja Pehrsson, Scott R Plotkin, Vijaya Ramesh, Nancy Ratner, Susann Schirmer, Larry Sherman, Elizabeth Schorry, David Stevenson, Douglas R Stewart, Nicole Ullrich, Annette C Bakker, Helen Morrison

Journal: Am. J. Med. Genet. A. 2014 Mar;164A(3):563-78.

 

The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known ...

Last Updated: 4 Mar 2014

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Schwannomatosis: a new member of neurofibromatosis family.
 

Author(s): Shan-lin Chen, Chang Liu, Bo Liu, Chuan-jun Yi, Zhi-xin Wang, Yan-bo Rong, Jin Zhu, Yi Ding, Guang-lei Tian

Journal: Chin. Med. J.. 2013 Jul;126(14):2656-60.

 

Schwannomatosis is a recently recognized peripheral nerve polyneoplasm with clinical characteristics and a genetic background that differ from those of neurofibromatosis 2 (NF2). The diagnostic and treatment criteria of this rare disorder are herein discussed.

Last Updated: 23 Jul 2013

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Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
 

Author(s): Scott R Plotkin, Jaishri O Blakeley, D Gareth Evans, C Oliver Hanemann, Theo J M Hulsebos, Kim Hunter-Schaedle, Ganjam V Kalpana, Bruce Korf, Ludwine Messiaen, Laura Papi, Nancy Ratner, Larry S Sherman, Miriam J Smith, Anat O Stemmer-Rachamimov, Jeremie Vitte, Marco Giovannini

Journal: Am. J. Med. Genet. A. 2013 Mar;161A(3):405-16.

 

Schwannomatosis is the third major form of neurofibromatosis and is characterized by the development of multiple schwannomas in the absence of bilateral vestibular schwannomas. The 2011 Schwannomatosis Update was organized by the Children's Tumor Foundation (www.ctf.org) and held ...

Last Updated: 25 Feb 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 "Schwannomatosis" returned 2 free, full-text review articles on human participants. First 3 results:

Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials.
 

Author(s): Pamela L Wolters, Staci Martin, Vanessa L Merker, Kathy L Gardner, Cynthia M Hingtgen, James H Tonsgard, Elizabeth K Schorry, Andrea Baldwin,

Journal: Neurology. 2013 Nov;81(21 Suppl 1):S6-14.

 

Neurofibromatosis (NF) is a genetic disease with multiple clinical manifestations that can significantly impact quality of life (QOL). Clinical trials should include patient-reported outcomes (PROs) as endpoints to assess treatment effects on various aspects of QOL, but there is no ...

Last Updated: 19 Nov 2013

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[Segmental schwannomatosis in upper-extremity: 5 cases report and literature review].
 

Author(s): Zhi-Xin Wang, Shan-Lin Chen, Chuan-Jun Yi, Chun Li, Yan-Bo Rong, Guang-Lei Tian

Journal: Beijing Da Xue Xue Bao. 2013 Oct;45(5):698-703.

 

Multiple schwannomas localized in a single body part not crossing the midline constitute a rare variant of neurofibromatosis, segmental schwannomatosis. We report our experience with 5 cases of segmental schwannomatosis of the upper extremity and review the related literature to improve ...

Last Updated: 18 Oct 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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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