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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Schwannomatosis


Other Names for this Disease
  • Congenital cutaneous neurilemmomatosis
  • Neurilemmomatosis congenital cutaneous
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Overview


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 don’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.[1]

Last updated: 2/10/2010

References

  1. Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2009; http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed 2/10/2010.
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1 question(s) from the public on Schwannomatosis have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The Children's Tumor Foundation provides information about schwannomatosis. Click on the above link to access this information.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Schwannomatosis. Click on the link to view a sample search on this topic.