Neurofibromatosis Type 2

  • Inheritance
    • AD
    • Complete penetrance
  • Mutation
    • NF2 gene, located on the long arm of chromosome 22 (22q12.2)
      • SCH gene (encodes schwannomin/merlin)
      • ~30% have segmental NF2
  • Clinical presentation
    • Age of symptom onset: between 18–24 years
    • Cutaneous symptoms (non specific) (70% have skin findings)
      • Café-au-lait spots in 40% of patients
        • Less frequent (fewer that 1% of patients with NF2 have 6 or more café-au-lait spots), have a lighter color, and have more irregular borders
      • Cutaneous schwannomas
        • Mildly hyperpigmented skin that is soft to touch with occasional hypertrichosis
        • Deep nodules
        • Chest and abdomen
    • Extracutaneous symptoms
      • Bilateral vestibular schwannomas (acoustic neuromas)
        • Located in the internal acoustic meatus, affecting the vestibulocochlear nerve
        • Can cause tinnitus, hearing loss, or vertigo
      • Early-onset cataracts, usually bilateral
      • Multiple cerebral and spinal tumors (especially meningiomas and ependymomas)
      • Other features: seizures,
  • Diagnostic criteria of neurofibromatosis type 2 - NO skin findings are included
    • Bilateral vestibular schwannomas or
    • First-degree relative with neurofibromatosis type 2 plus
        1. unilateral vestibular schwannomas or
        1. 2. any two of the following: neurofibroma, meningioma, ependymal glioma, schwannoma in another location or juvenile posterior cataract