{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T11:20:48Z","timestamp":1778498448599,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,12,12]],"date-time":"2011-12-12T00:00:00Z","timestamp":1323648000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:p>Pilomatrixomas are benign follicular tumors that occur most commonly in children. Rare multiple or familial pilomatrixomas have been associated with myotonic dystrophy and other disorders. Although sporadic pilomatrixomas and hybrid cutaneous cysts with pilomatrixoma\u2010like features have been observed in some kindreds with Gardner syndrome, an autosomal dominant form of familial adenomatous polyposis, no definitive association has been made with multiple or familial pilomatrixomas. Here we describe two siblings with multiple pilomatrixomas who were also found to have a family history of colonic adenocarcinoma. Genetic testing revealed a mutation in the 5\u2032 portion of the adenomatous polyposis coli (<jats:italic>APC<\/jats:italic>) gene, in a region associated with an attenuated APC phenotype. These findings show that multiple pilomatrixomas may be the presenting symptom of patients with <jats:italic>APC<\/jats:italic> gene mutations.<\/jats:p><jats:p>Trufant J, Kurz W, Frankel A, Muthusamy V, McKinnon W, Greenblatt M, Lazar A, Cook D, Bosenberg M. Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.<\/jats:p>","DOI":"10.1111\/j.1600-0560.2011.01836.x","type":"journal-article","created":{"date-parts":[[2011,12,12]],"date-time":"2011-12-12T13:49:40Z","timestamp":1323697780000},"page":"440-443","source":"Crossref","is-referenced-by-count":32,"title":["Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli"],"prefix":"10.1111","volume":"39","author":[{"given":"Joshua","family":"Trufant","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayne","family":"Kurz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amylynne","family":"Frankel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viswanathan","family":"Muthusamy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"McKinnon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Greenblatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Lazar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Cook","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcus","family":"Bosenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,12,12]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0303-6987.2004.00170.x"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1996.tb00651.x"},{"key":"e_1_2_7_4_2","first-page":"409.","article-title":"Multiple pilomatrixomas associated with Steinert disease.","volume":"14","author":"Laredo OC","year":"1997","journal-title":"An Med Interna"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1054\/bjps.1998.3036"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1994.tb00067.x"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<81::AID-AJMG19>3.0.CO;2-K"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000018286"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1159\/000051819"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00827.x"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1995.tb01392.x"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(83)70071-X"},{"key":"e_1_2_7_13_2","first-page":"326.","article-title":"Gardner syndrome with pilomatrixoma\u2010like hair follicle cysts.","volume":"41","author":"Rutten A","year":"1990","journal-title":"Hautarzt"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2004.tb00669.x"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1995.tb00195.x"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30585"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1827.2001.01231.x"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.112072199"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0560.2011.01836.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0560.2011.01836.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T01:29:34Z","timestamp":1698715774000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0560.2011.01836.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,12]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1111\/j.1600-0560.2011.01836.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0560.2011.01836.x","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"value":"0303-6987","type":"print"},{"value":"1600-0560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,12]]}}}