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Case Reports
. 2006 Feb;77(2):269-71.
doi: 10.1136/jnnp.2005.067017.

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

A J Murray  1 , T A T Hughes, J W Neal, E Howard, D G R Evans, P S Harper
Affiliations
Case Reports

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

A J Murray et al. J Neurol Neurosurg Psychiatry. 2006 Feb.

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.

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Conflict of interest statement

Competing interests: none declared

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