Soft tissue
Peripheral nerve
Neurofibromatosis type 2

Author: Vijay Shankar, M.D.

Revised: 30 January 2018, last major update November 2012

Copyright: (c) 2002-2018,, Inc.

PubMed Search: Neurofibromatosis type 2 [title]

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Cite this page: Shankar, V. Neurofibromatosis type 2. website. Accessed March 19th, 2019.
Definition / general
  • Also known as NF2, acoustic neurofibromatosis
  • Autosomal dominant, 1 / 40K incidence
  • Mutation in merlin gene at 22q12; function unknown but widely distributed and similar to cytoskeletal protein
  • Nonsense mutations usually more severe than missense mutations
  • Signs / symptoms: bilateral acoustic neuromas or multiple meningiomas, spinal cord ependymomas; also schwannosis (ingrowth of Schwann cells into cord), meningioangiomatosis (meningeal cells and blood vessel proliferation into the brain), glial hamartia (microscopic nodular collections of glial cells in cerebral cortex); cafe au lait spots, but no Lisch nodules
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