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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Schwannomatosis

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Other Names for this Disease
  • Congenital cutaneous neurilemmomatosis
  • Neurilemmomatosis congenital cutaneous
Related Diseases
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Tests & Diagnosis

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How is schwannomatosis diagnosed?

A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with similar features (namely, neurofibromatosis type 2). This may include:[1]
  • Tumor pathology confirming that the growths are, in fact, schwannomas
  • Imaging studies, such as an MRI examining the vestibular nerve. It is important to rule out the presence of bilateral (affecting both sides) vestibular schwannomas which would be suggestive of neurofibromatosis type 2 rather than schwannomatosis
  • Genetic testing for a change (mutation) in the SMARCB1 or LZTR1 genes. Unfortunately, genetic testing is not informative in all people affected by schwannomatosis.
Last updated: 7/26/2015

References
  1. Kaleb Yohay, MD; Amanda Bergner, MS, CGC. Schwannomatosis. UpToDate. January 2015; Accessed 7/26/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.