Extensive Acrochordons and Islet-cell Tumor in Tuberous Sclerosis associated with TSC2 mutations
Bacground: Acrochordons are frequently encountered benign skin lesions that may occasionally represent underlying pathology. They are described in patients with tuberous sclerosis.
Case: 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 one thousand acrochordons in addition to findings meeting the criteria for tuberous sclerosis complex (TSC). Further evaluation revealed pancreatic islet cell tumors.
Conclusion: Acrochordons are a common skin lesion, but when presenting in an atypical manner or unusual number may be a sign of TCS and underlying occult pathology thereby warranting evaluation of TSC2. We also speculate that increased risk for islet cell tumors in TS patients is associated TSC2 mutations, which may represent another, but still unrecognized genotype-phenotype correlation.