Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.
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.
Merritt
J Lawrence
JL
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
Davis
Dawn Marie R
DM
Pittelkow
Mark R
MR
Babovic-Vuksanovic
Dusica
D
D007516:Adenoma, Islet Cell / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics; D012871:Skin Diseases / Q000150:complications / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins