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Superficial neurofibromas in the setting of schwannomatosis: nosologic implications.
MedLine Citation:
PMID:  21191601     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Fausto J Rodriguez; Bernd W Scheithauer; David George; Rajiv Midha; Mia Maccollin; Anat O Stemmer-Rachamimov
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-12-30
Journal Detail:
Title:  Acta neuropathologica     Volume:  -     ISSN:  1432-0533     ISO Abbreviation:  -     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0412041     Medline TA:  Acta Neuropathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Division of Neuropathology, Department of Pathology, Johns Hopkins University, 720 Rutland Avenue, Ross Building 512B, Baltimore, MD, 21205, USA, frodrig4@jhmi.edu.
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