Greenwood Genetics Center, Greenwood, South Carolina, USA.
Am J Med Genet A. 2010 Mar;152A(3):657-64. doi: 10.1002/ajmg.a.33320.
Facial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a geneticist when such lesions are found. They occur in up to 90% of persons with TS and 40-80% of individuals with MEN1. Early onset facial angiofibromas that are not associated with any other systemic sign appear to be unusual, and their occurrence can leave the clinician with some uncertainty as to their significance, as well as how to proceed. In this article we describe four patients with what appear to be isolated, bilateral facial angiofibromas. We discuss the significance of these lesions with respect to the conditions in which they have been seen, review prior reports of apparently isolated angiofibromas, and provide some rough calculations as to how likely it would be for an underlying systemic condition to be overlooked after different levels of investigation have been performed. We also look at some aspects of the financial cost/benefit ratio of further investigation of TS beyond a clinical examination.
面部血管纤维瘤是结节性硬化症（TS）和 MEN1 的主要诊断标志，当发现此类病变时，前者可能是遗传学家首先考虑的疾病。它们发生在高达 90%的 TS 患者和 40-80%的 MEN1 患者中。与任何其他全身征象无关的早期面部血管纤维瘤似乎不常见，其发生会使临床医生对其意义以及如何进行感到不确定。在本文中，我们描述了四名似乎患有孤立性双侧面部血管纤维瘤的患者。我们讨论了这些病变与出现这些病变的条件之间的关系，回顾了先前关于明显孤立性血管纤维瘤的报告，并就进行不同程度的检查后，忽略潜在的系统性疾病的可能性进行了一些粗略的计算。我们还研究了进一步检查 TS 超出临床检查的财务成本/效益比的一些方面。
