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Superficial neurofibromas in the setting of schwannomatosis: nosologic implications

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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.

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Authors and Affiliations

  1. Division of Neuropathology, Department of Pathology, Johns Hopkins University, 720 Rutland Avenue, Ross Building 512B, Baltimore, MD, 21205, USA

    Fausto J. Rodriguez

  2. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Fausto J. Rodriguez & Bernd W. Scheithauer

  3. Department of Pathology and Neurosurgery, Foothills Hospital, Calgary, AB, Canada

    David George

  4. Department of Clinical Neurosciences, Faculty of Medicine, University of Calgary, Calgary, Canada

    Rajiv Midha

  5. Department of Neurology, Massachusetts General Hospital, Boston, MA, USA

    Mia MacCollin

  6. Department of Pathology, Massachusetts General Hospital, Boston, MA, USA

    Anat O. Stemmer-Rachamimov

Authors
  1. Fausto J. Rodriguez
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  2. Bernd W. Scheithauer
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  3. David George
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  4. Rajiv Midha
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  5. Mia MacCollin
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  6. Anat O. Stemmer-Rachamimov
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Correspondence to Fausto J. Rodriguez.

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Rodriguez, F.J., Scheithauer, B.W., George, D. et al. Superficial neurofibromas in the setting of schwannomatosis: nosologic implications. Acta Neuropathol 121, 663–668 (2011). https://doi.org/10.1007/s00401-010-0793-8

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  • DOI: https://doi.org/10.1007/s00401-010-0793-8

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