학술논문
Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromasHow to cite this article: Hunter AGW, Nezarati MM, Velsher L. 2010. Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas. Am J Med Genet Part A 152A:657–664.
Document Type
Article
Source
American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p657-664, 8p
Subject
Language
ISSN
15524825; 15524833
Abstract
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 costbenefit ratio of further investigation of TS beyond a clinical examination. © 2010 WileyLiss, Inc.