One of the phakomatoses (neuroectodermal disorders with skin and CNS tumors; other of the more common phakomatoses include tuberous sclerosis, Von-hippel Lindau disease, Sturge-Weber
-Incidence 1:50,000 (much less common than NF-1)-Autosominal dominant inheritance via chromsome 22 defect
Diagnostic criteria:
-Bilateral vestibular schwanommas are diagnostic
-First degree relative with NF-2 plus unilateral vestibularschwanomma, meningioma, glioma, scwhanomma, neurofibroma
-Cutaneous manifestations are rare
Radiographic features:-~100% have cns tumors
-Bilateral vestibular schwanomma is diagnostic
-Other cranial nerve schwanommas-Meningiomas (can be multiple)
-Non-neoplastic intracranial calcifications (especially choroid plexus, but can also be cortical)
-Spinal cord schwanommas and ependymomas
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