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Diagnosis of Schwannomatosis

The diagnostic criteria for a person to be diagnosed with schwannomatosis follow a strict guideline established by the NIH. A diagnosis for schwannomatosis may be established if a person meets one of the conditions identified below.

Confirmed (definite) diagnosis of schwannomatosis:

  • 2 or more non-intradermal schwannomas (at least 1 with histologic confirmation)
  • no evidence of a vestibular tumor on high-quality MRI scan
  • no known constitutional NF2 mutation
  • 1 pathologically confirmed nonvestibular schwannoma plus a first-degree relative who meets the above criteria

Presumed (probable) diagnosis of schwannomatosis:

  • 2 or more non-intradermal schwannomas (at least 1 with histologic confirmation)
  • no evidence of vestibular tumor on high quality MRI scan
  • no known constitutional NF2 mutation
  • no symptoms of 8th nerve dysfunction
  • radiographic evidence (image scans) of a nonvestibular schwannoma plus a first degree relative meeting the criteria for definite schwannomatosis

Only a doctor with expertise in schwannomatosis can provide an accurate diagnosis.

If you suspect you have schwannomatosis, but no diagnosis has been made, please visit us for a consultation with a genetic counselor.

For more information, contact the Johns Hopkins Comprehensive Neurofibromatosis (NF) Center at 410-502-6732.

 
 
 
 
 
 

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