@entity8605 ( @entity1265 und @entity13755 ) are different forms of @entity4786 , well defined both clinically and genetically. In absence of typical clinical features of @entity1265 (caf  -au-lait-spots, cutaneous @entity3292 , Lisch-nodules) or @entity13755 ( @entity394 ) clinical classification is often not possible. @entity3292 are more common in @entity1265 and @entity808 are typical for @entity13755 , but pathological histology does not provide sufficient evidence for diagnosis. We describe 14 @entity1 who presented with the clinical picture of multiple @entity5 . Detailed family history, exact clinical examination including an ophthalmological examination led to the diagnosis of @entity13755 in four cases. Mutation analysis confirmed the diagnosis of @entity13755 in one case by identification of a 163 base pair deletion in the @entity13755 transcript. To investigate the expression of @entity13755 and neurofibromin we stained @entity5 paraffin sections of six patients with antibodies against peptides of the @entity1265 and the @entity13755 protein. Based on preserved immunoreactivities we were able to exclude diagnosis of @entity1265 in three and @entity13755 in two cases. In four @entity1 the clinical symptoms could confirm the diagnosis of @entity28536 . Combining the results of clinical, neurogenetical and immunohistochemical examinations we could diagnose @entity1265 or @entity13755 in ten @entity1 in total. Immunoreactivity led to the suggestion of @entity13755 in two @entity1 ; the other two @entity1 whose @entity5 were not stained so far, could as yet not be classified for NF.

[ @entity4786 versus XXXX ].

@entity808 :: ('MESH:D009442', 'Disease') :: ['schwannomas'] @entity1 :: ('9606', 'Species') :: ['patients'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumours', 'spinal tumours', 'tumour'] @entity3292 :: ('MESH:D009455', 'Disease') :: ['Neurofibromas', 'neurofibromas'] @entity8605 :: ('MESH:D016518', 'Disease') :: ['Neurofibromatosis Type 1 and 2'] @entity28536 :: ('MESH:C536641', 'Disease') :: ['schwannomatosis'] @entity4786 :: ('MESH:D017253', 'Disease') :: ['neurofibromatosis'] @entity394 :: ('MESH:D015837', 'Disease') :: ['vestibular schwanoma'] @entity1265 :: ('4763', 'Gene') :: ['NF1'] @entity13755 :: ('4771', 'Gene') :: ['NF2', 'schwannomin']
@entity28536 :: (MESH:C536641,Disease) :: ['schwannomatosis']
