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Diseases

Genetic and Rare Diseases Information Center (GARD)

Schwannomatosis


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

Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, schwannomatosis is caused by changes (mutations) in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery.[1][2]
Last updated: 7/26/2015

References

  1. Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke. February 2015; http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm#279853162.
  2. Kaleb Yohay, MD; Amanda Bergner, MS, CGC. Schwannomatosis. UpToDate. January 2015; Accessed 7/26/2015.
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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

  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Congenital cutaneous neurilemmomatosis
  • Neurilemmomatosis congenital cutaneous
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.