期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 15, 页码 1669-1672出版社
WILEY
DOI: 10.1002/ajmg.a.31351
关键词
tuberous sclerosis; acrochordons; pancreatic islet-cell tumor; renal failure
Acrochordons are frequently encountered benign skin lesions that may occasionally represent underlying pathology. Pancreatic islet-cell tumors are rare neoplasms and few cases have been described in patients with tuberous sclerosis complex (TSC). A 39-year-old man presenting in acute renal failure was referred to us for further diagnostic evaluation of coincidentally noted dysmorphic features. Physical examination revealed over 1,000 acrochorclons in addition to findings meeting criteria for TSC. The diagnosis was confirmed by disclosure Of Mutation in the TSC2 gene. Further evaluation revealed pancreatic islet cell tumors. Acrochordons are a common skin lesion, but when presenting in an atypical manner or unusual number may be a sign of TSC and underlying occult pathology thereby warranting evaluation of TSC2. Additionally, mutations in TSC2 gene may be a risk factor for developing pancreatic islet-cell tumors. (c) 2006 Wiley-Liss, Inc.
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