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Extensive acrochordons and pancreatic islet‐cell tumors in tuberous sclerosis associated with TSC2 mutations
Author(s) -
Merritt J. Lawrence,
Davis Dawn Marie R.,
Pittelkow Mark R.,
BabovicVuksanovic Dusica
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31351
Subject(s) - tuberous sclerosis , tsc2 , medicine , pathology , islet , occult , clear cell , gene mutation , mutation , renal cell carcinoma , gene , biology , pi3k/akt/mtor pathway , insulin , apoptosis , biochemistry , alternative medicine
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 acrochordons 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. © 2006 Wiley‐Liss, Inc.