Other Names for this Disease
- Congenital cutaneous neurilemmomatosis
- Neurilemmomatosis congenital cutaneous
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Tests & Diagnosis
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:
- 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
- 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.