{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:05Z","timestamp":1792084025266,"version":"4.4.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,5,19]],"date-time":"2017-05-19T00:00:00Z","timestamp":1495152000000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phacomatosis pigmentokeratotica (<jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>) is a rare epidermal nevus syndrome characterized by the co\u2010occurrence of a nevus sebaceous arranged along the lines of Blaschko with a speckled lentiginous nevus (<jats:styled-content style=\"fixed-case\">SLN<\/jats:styled-content>). We report a novel <jats:italic><jats:styled-content style=\"fixed-case\">KRAS<\/jats:styled-content><\/jats:italic> mutation in a patient with a large nevus sebaceous and an <jats:styled-content style=\"fixed-case\">SLN<\/jats:styled-content> who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in the literature. This case expands\u00a0our\u00a0knowledge of the genetic basis for phacomatosis, in which mutations in <jats:italic><jats:styled-content style=\"fixed-case\">HRAS<\/jats:styled-content><\/jats:italic> have been previously described, although this report provides evidence that activating mutations in <jats:italic><jats:styled-content style=\"fixed-case\">KRAS<\/jats:styled-content><\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">HRAS<\/jats:styled-content><\/jats:italic> may cause <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>. This report confirms that <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> is a mosaic <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content>opathy with malignant potential and raises the question of whether screening for other <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content>\u2010associated malignancies should be performed for all children with <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/pde.13119","type":"journal-article","created":{"date-parts":[[2017,5,19]],"date-time":"2017-05-19T07:41:27Z","timestamp":1495179687000},"page":"352-355","source":"Crossref","is-referenced-by-count":30,"title":["Phacomatosis Pigmentokeratotica: A Mosaic <scp>RAS<\/scp>opathy with Malignant Potential"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6711-2993","authenticated-orcid":false,"given":"Amit","family":"Om","sequence":"first","affiliation":[{"name":"College of Medicine Medical University of South Carolina Charleston South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara S.","family":"Cathey","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center North Charleston South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.","family":"Gathings","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Dermatologic Surgery Medical University of South Carolina Charleston South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Hudspeth","sequence":"additional","affiliation":[{"name":"Hematology\u2010Oncology Division Department of Pediatrics Medical University of South Carolina Charleston South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Lee","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center North Charleston South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Marzolf","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Dermatologic Surgery Medical University of South Carolina Charleston South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4175-316X","authenticated-orcid":false,"given":"Lara","family":"Wine Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Dermatologic Surgery Medical University of South Carolina Charleston South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<363::AID-AJMG27>3.0.CO;2-R"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.24"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01655.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2316"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2010.01.017"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2005.22110.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0824"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.08.045"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.743"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.379"},{"key":"e_1_2_5_12_1","unstructured":"AwasthyN PulP.Epidermal nevus syndrome. 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