A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?
- 1Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK
- 2Department of Neurology, University Hospital of Wales
- 3Department of Histopathology, University Hospital of Wales
- 4Department of Medical Genetics, St Mary’s Hospital, Hathersage Road, Manchester, UK
- Correspondence to: Dr A J Murray Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK; Alex.Murray{at}cardiffandvale.wales.nhs.uk
- Received 8 March 2005
- Accepted 6 June 2005
- Revised 3 June 2005
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.
Footnotes
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Patient consent was obtained for publication of figure 1
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Competing interests: none declared
