A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?
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.
Murray
A J
AJ
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK. Alex.Murray@cardiffandvale.wales.nhs.uk
Hughes
T A T
TA
Neal
J W
JW
Howard
E
E
Evans
D G R
DG
Harper
P S
PS
D003937:Diagnosis, Differential; D016515:Genes, Neurofibromatosis 2; D006225:Hand; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics; D009442:Neurilemmoma / Q000175:diagnosis* / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics