Acta Neuropathologica

, Volume 121, Issue 5, pp 663–668

Superficial neurofibromas in the setting of schwannomatosis: nosologic implications

  • Fausto J. Rodriguez
  • Bernd W. Scheithauer
  • David George
  • Rajiv Midha
  • Mia MacCollin
  • Anat O. Stemmer-Rachamimov
Case Report

DOI: 10.1007/s00401-010-0793-8

Cite this article as:
Rodriguez, F.J., Scheithauer, B.W., George, D. et al. Acta Neuropathol (2011) 121: 663. doi:10.1007/s00401-010-0793-8

Abstract

First described in the past decade, schwannomatosis is a syndrome distinct from neurofibromatosis 2 (NF2). It is characterized by the development of multiple schwannomas, sparing the vestibular division of cranial nerve VIII, and may also predispose to develop meningiomas. We report two female patients, a 27 and a 44 years old who developed multiple peripheral schwannomas, but without involvement of the vestibular nerves, satisfying clinical criteria for schwannomatosis. Lack of vestibular nerve involvement was confirmed with MRI using an internal auditory canal protocol with 3 mm thick slices in both patients after age 30. Both patients developed a small neurofibroma in axillary subcutaneous tissues and a diffuse cutaneous neurofibroma of the left buttock, respectively. This report highlights that superficial neurofibromas may arise in the setting of schwannomatosis, which may have implications for the diagnostic criteria of this unique syndrome. In particular, the presence of a cutaneous neurofibroma in a patient with multiple schwannomas should not lead to a diagnosis of NF2.

Keywords

Schwannoma Neurofibroma Schwannomatosis Neurofibromatosis Peripheral nerve 

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Fausto J. Rodriguez
    • 1
    • 2
  • Bernd W. Scheithauer
    • 2
  • David George
    • 3
  • Rajiv Midha
    • 4
  • Mia MacCollin
    • 5
  • Anat O. Stemmer-Rachamimov
    • 6
  1. 1.Division of Neuropathology, Department of PathologyJohns Hopkins UniversityBaltimoreUSA
  2. 2.Department of Laboratory Medicine and PathologyMayo ClinicRochesterUSA
  3. 3.Department of Pathology and NeurosurgeryFoothills HospitalCalgaryCanada
  4. 4.Department of Clinical Neurosciences, Faculty of MedicineUniversity of CalgaryCalgaryCanada
  5. 5.Department of NeurologyMassachusetts General HospitalBostonUSA
  6. 6.Department of PathologyMassachusetts General HospitalBostonUSA

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