Nodules on the trunk and the arm of an 8-year-old boy

Published on Jun 1, 2011in Dermatologica Sinica0.808
· DOI :10.1016/J.DSI.2011.05.009
Yi An Chen1
Estimated H-index: 1
(NCKU: National Cheng Kung University),
Hung Chien Lin2
Estimated H-index: 2
(NCKU: National Cheng Kung University),
Sheau-Chiou Chao16
Estimated H-index: 16
(NCKU: National Cheng Kung University)
  • References (5)
  • Citations (0)
#1SK Selvanathan (St Mary's Hospital)H-Index: 1
#2A Shenton (St Mary's Hospital)H-Index: 28
Last. D G R Evans (St Mary's Hospital)H-Index: 44
view all 7 authors...
Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG. Further genotype–phenotype correlations in neurofibromatosis 2. Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect). We present a comparison betwe...
51 CitationsSource
Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Rehabilitation with brainstem implants is improving this outcome. Schwannomas also occur on other cranial nerves, on spinal nerve roots, and on peripheral nerves. Meningiomas and ependymomas are other tumor features. In excess of 50% of patients represen...
72 CitationsSource
#1Ashok R. Asthagiri (NIH: National Institutes of Health)H-Index: 20
#2Dilys M. Parry (NIH: National Institutes of Health)H-Index: 26
Last. Russell R. Lonser (NIH: National Institutes of Health)H-Index: 48
view all 7 authors...
Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25 000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, a...
275 CitationsSource
#1D G R Evans (St Mary's Hospital)H-Index: 44
#2Michael E. BaserH-Index: 32
Last. Richard T. Ramsden (Manchester Royal Infirmary)H-Index: 33
view all 16 authors...
A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on vestibular schwannoma (VS) surgery. NF2 patients should be managed at specialty treatment centres, whose staff has extensive experience with the disease. All NF2 patients and their families should have access to genetic testing because presymptomatic diagnosis improves the clinical management of the disease. Some clinical manife...
158 CitationsSource
#1D G R Evans (St Mary's Hospital)H-Index: 36
#1D G R EvansH-Index: 44
Last. Tom StrachanH-Index: 45
view all 5 authors...
Blood samples from 125 unrelated families with classical type 2 neurofibromatosis (NF2) with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene. A further 17 families fulfilling modified criteria for NF2 have also been analysed. Causative mutations have been identified in 54 (43%) classical families and six (35%) of those fulfilling modified criteria. Forty-two cases from 38 families with truncating mutations had an average age at onset of symptoms of 19 years and ...
156 CitationsSource
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