Schwannomatosis

Common Name(s)

Schwannomatosis

Schwannomatosis is a rare genetic condition that causes the development of non-cancerous (benign) tumors along nerves in the body. Schwannomatosis is one type of neurofibromatosis (NF), which is a group of genetic conditions that cause abnormal cell growth in nerve tissues throughout the body. This condition causes non-cancerous (benign) tumors to develop in special cells that surround nerves (Schwann cells). These tumors, called schwannomas, develop around nerves that come from the brain (cranial), are in the spine (spinal), and that connect the brain and spine (peripheral). Unlike another form of NF, known as neurofibromatosis type 2 (NF2), schwannomatosis does not cause tumors to form in the nerves between the ear and brain (vestibular schwannomas). This means people with schwannomatosis typically do not have hearing loss. Symptoms of schwannomatosis depend on the location of the tumors, but can include chronic pain, numbness, tingling, and weakness.

The genetics of schwannomatosis are not well understood. Some cases of the condition are believed to be caused by a change (mutation) in the SMARCB1 gene. The diagnosis of schwannomatosis is considered in people who have schwannomas in any area of the body that does not include the inner ear. Genetic testing may be used to confirm the diagnosis. There is no cure for schwannomatosis, but surgery to remove schwannomas may be helpful if a person has significant symptoms. If your child has been diagnosed with schwannomatosis, talk to their doctor about all treatment options. Additional information and support are available through schwannomatosis support groups.

Source: Advocacy organizations associated with the condition.

 

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.

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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.

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

The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis.
 

Author(s): Mark D Allen, Stefan M V Freund, Giovanna Zinzalla, Mark Bycroft

Journal: Structure. 2015 Jul;23(7):1344-9.

 

SWI/SNF complexes use the energy of ATP hydrolysis to remodel chromatin. In mammals they play a central role in regulating gene expression during differentiation and proliferation. Mutations in SWI/SNF subunits are among the most frequent gene alterations in cancer. The INI1/hSNF5/SMARCB1 ...

Last Updated: 9 Jul 2015

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Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
 

Author(s): Miriam J Smith, Bertand Isidor, Christian Beetz, Simon G Williams, Sanjeev S Bhaskar, Wilfrid Richer, James O'Sullivan, Beverly Anderson, Sarah B Daly, Jill E Urquhart, Alan Fryer, Cecilie F Rustad, Samantha J Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, Sebastien Barbarot, Franck Bourdeaut, William G Newman, D Gareth Evans

Journal: Neurology. 2015 Jan;84(2):141-7.

 

We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation.

Last Updated: 13 Jan 2015

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Clinical response to bevacizumab in schwannomatosis.
 

Author(s): Jaishri Blakeley, Karisa C Schreck, D Gareth Evans, Bruce R Korf, David Zagzag, Matthias A Karajannis, Amanda L Bergner, Allan J Belzberg

Journal: Neurology. 2014 Nov;83(21):1986-7.

 

Last Updated: 18 Nov 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 "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 Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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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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