McLimore Heather, McCaughey Cort, Vanness Erin
WMJ. 2014 Apr;113(2):72-3.
Segmental neurofibromatosis (NF5) is a rare variant of neurofibromatosis. To our knowledge, there have been few reports of cases presenting later in life. The recognition of NF5 is important, as there have been reports of paraneoplastic manifestations and transmission to offspring. Here we present the case of a patient who presented with NF5 first appearing in her mid-50s. This case illustrates the subtle nature of NF5, which often leads to misdiagnosis.
节段性神经纤维瘤病(NF5)是神经纤维瘤病的一种罕见变体。据我们所知,很少有关于在生命后期出现病例的报道。认识NF5很重要,因为已有副肿瘤表现和传给后代的报道。在此,我们报告一例患者,其NF5首次出现在50多岁时。该病例说明了NF5的隐匿性,这常常导致误诊。