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Schwannomatosis

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Description

Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and, less frequently, meningiomas. Individuals with schwannomatosis most commonly present between the second and fourth decade of life. The most common presenting feature is localized or diffuse pain or asymptomatic mass. Schwannomas most often affect peripheral nerves and spinal nerves. Meningiomas occur in about 5% of individuals with schwannomatosis and have only been reported in individuals with SMARCB1-related schwannomatosis. Malignancy remains a theoretic risk especially in individuals with a SMARCB1 pathogenic variant.

GeneReviews

  • Mode of Inheritance

    VARIANTS

    8

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    Genes

    External Links

    • OMIM
    • Orphanet

      93921

    • HPO
    • Medgen

      C1335929

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