{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:44:11Z","timestamp":1791150251829,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acrochordons are frequently encountered benign skin lesions that may occasionally represent underlying pathology. Pancreatic islet\u2010cell tumors are rare neoplasms and few cases have been described in patients with tuberous sclerosis complex (TSC). A 39\u2010year\u2010old 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 <jats:italic>TSC2<\/jats:italic> 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 <jats:italic>TSC2<\/jats:italic>. Additionally, mutations in <jats:italic>TSC2<\/jats:italic> gene may be a risk factor for developing pancreatic islet\u2010cell tumors. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31351","type":"journal-article","created":{"date-parts":[[2006,7,12]],"date-time":"2006-07-12T00:16:43Z","timestamp":1152663403000},"page":"1669-1672","source":"Crossref","is-referenced-by-count":36,"title":["Extensive acrochordons and pancreatic islet\u2010cell tumors in tuberous sclerosis associated with <i>TSC2<\/i> mutations"],"prefix":"10.1002","volume":"140A","author":[{"suffix":"II","given":"J. Lawrence","family":"Merritt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn Marie R.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark R.","family":"Pittelkow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dusica","family":"Babovic\u2010Vuksanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.pap.0000131828.00189.29"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2001.112399"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/14.4.988"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s005920200014"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.4158\/EP.8.2.109"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200310000-00012"},{"key":"e_1_2_4_8_1","volume-title":"Tuberous Sclerosis Complex. 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