title: Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas.
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 cost/benefit ratio of further investigation of TS beyond a clinical examination.
authors.affiliation: Greenwood Genetics Center, Greenwood, South Carolina, USA. heddalasdair@aol.com
authors.forename: Alasdair G W
authors.initials: AG
authors.lastname: Hunter
authors.forename: Marjan M
authors.initials: MM
authors.lastname: Nezarati
authors.forename: Lea
authors.initials: L
authors.lastname: Velsher
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D018322:Angiofibroma / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D005153:Facial Neoplasms / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics