TY - JOUR
T1 - Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations
AU - Merritt, J. Lawrence
AU - Davis, Dawn Marie E.
AU - Pittelkow, Mark E.
AU - Babovic-Vuksanovic, Dusica
PY - 2006/8/1
Y1 - 2006/8/1
N2 - 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.
AB - 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.
KW - Acrochordons
KW - Pancreatic islet-cell tumor
KW - Renal failure
KW - Tuberous sclerosis
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U2 - 10.1002/ajmg.a.31351
DO - 10.1002/ajmg.a.31351
M3 - Article
C2 - 16835931
AN - SCOPUS:33746599008
SN - 1552-4825
VL - 140
SP - 1669
EP - 1672
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 15
ER -