Lin Vincent, Daniel Sam, Forte Vito
Department of Otolaryngology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Laryngoscope. 2004 Aug;114(8):1410-4. doi: 10.1097/00005537-200408000-00018.
OBJECTIVES/HYPOTHESIS: Several prominent textbooks have claimed that a plexiform neurofibroma is pathognomonic for neurofibromatosis type I. This is not in agreement with the National Institutes of Health criteria, which require two signs to be present, one of which can be a plexiform neurofibroma. Is a plexiform neurofibroma pathognomonic for neurofibromatosis type I?
Retrospective chart review.
Fifty-one patients with surgically resected plexiform neurofibromas between the years 1991 and 2001 were identified, and their charts reviewed. The presence and absence of any manifestation of neurofibromatosis type I as detailed in the National Institutes of Health criteria were recorded. The pathology database at the Hospital for Sick Children (HSC) was searched retrospectively.
Five of the 51 patients had a single solitary plexiform neurofibroma. They were followed at the neurofibromatosis clinic at the HSC with regular detailed examinations and no other stigmata were found.
Although plexiform neurofibromas are highly suggestive of neurofibromatosis type I, they are not pathognomonic as claimed.
目的/假设：几本著名的教科书声称丛状神经纤维瘤是I型神经纤维瘤病的特征性表现。这与美国国立卫生研究院的标准不一致，该标准要求存在两个体征，其中之一可以是丛状神经纤维瘤。丛状神经纤维瘤是I型神经纤维瘤病的特征性表现吗？
回顾性病历审查。
确定了1991年至2001年间51例接受手术切除丛状神经纤维瘤的患者，并对其病历进行审查。记录美国国立卫生研究院标准中详细列出的I型神经纤维瘤病的任何表现的有无。对病童医院（HSC）的病理数据库进行了回顾性搜索。
51例患者中有5例患有单个孤立性丛状神经纤维瘤。他们在HSC的神经纤维瘤病诊所接受定期详细检查，未发现其他体征。
尽管丛状神经纤维瘤高度提示I型神经纤维瘤病，但它们并非如所声称的那样具有特征性。
