A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):269-71. doi: 10.1136/jnnp.2005.067017.

Abstract

A 54 year old man presented with numerous cutaneous schwannomas, cranial nerve lesions, and spinal cord lesions, but no evidence of vestibular nerve involvement. There was no family history of neurocutaneous lesions. To help discriminate between the various possible diagnoses in this patient, molecular analysis of two cutaneous schwannomas was undertaken. An identical point mutation in the NF2 gene in the two anatomically distinct tumours was found, confirming this as a case of NF2 mosaicism.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Genes, Neurofibromatosis 2
  • Hand
  • Humans
  • Male
  • Middle Aged
  • Mosaicism
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / genetics
  • Neurilemmoma / diagnosis*
  • Neurilemmoma / genetics
  • Neurofibromatosis 2 / diagnosis*
  • Neurofibromatosis 2 / genetics
  • Point Mutation / genetics
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics