{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:07Z","timestamp":1792084027857,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,7]],"date-time":"2024-12-07T00:00:00Z","timestamp":1733529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We report a patient with clinically confirmed Schimmelpenning\u2013Feuerstein\u2013Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic <jats:italic>KRAS<\/jats:italic> c.436G&gt;A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients. These findings corroborate the evidence of SFM syndrome being a mosaic <jats:italic>RAS<\/jats:italic>opathy, broaden the phenotypic spectrum of oculocutaneous mosaic <jats:italic>RAS<\/jats:italic>opathies, and indicate SFM syndrome as a continuum of the OES\u2013ECCL disorder spectrum.<\/jats:p>","DOI":"10.1111\/pde.15820","type":"journal-article","created":{"date-parts":[[2024,12,7]],"date-time":"2024-12-07T11:30:58Z","timestamp":1733571058000},"page":"591-595","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Mosaic <scp><i>KRAS<\/i><\/scp> Mutation in Schimmelpenning\u2013Feuerstein\u2013Mims Syndrome With Overlapping <scp>Oculoectodermal Syndrome<\/scp> and <scp>Encephalocraniocutaneous Lipomatosis<\/scp> Features"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9597-7978","authenticated-orcid":false,"given":"Hyv\u00f6nen","family":"Hanna","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergology, ERN\u2010Skin Reference Center, Skin and Allergy Hospital University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kettunen","family":"Kaisa","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avela","family":"Kristiina","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital. Department of Medical Genetics University of Turku and Turku University Hospital  Helsinki Finland"},{"name":"Department of Clinical Genetics, ERN Ithaca University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kivirikko","family":"Sirpa","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, ERN Ithaca University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeskanen","family":"Leila","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, ERN\u2010Skin Reference Center, Skin and Allergy Hospital University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suominen","family":"Sinikka","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salminen","family":"P\u00e4ivi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, HUS Rare Diseases Center, VASCERN VASCA European Reference Centre, New Children's Hospital University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannula\u2010Jouppi","family":"Katariina","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, ERN\u2010Skin Reference Center, Skin and Allergy Hospital University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62356"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1213358"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37135"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2316"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12775"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.625"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37048"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22739"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.377"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2015.35.1.178"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2010.01.017"},{"key":"e_1_2_8_13_1","first-page":"557","volume-title":"Neurocutaneous Disease: The Phacomatoses and Hamartoneoplastic Syndromes","author":"Pascual\u2010Castroviejo I.","year":"2007"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1597\/06\u2010025.1"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32015"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010022\u201013806\u2010w"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31969"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066068"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000017968"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.678296"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15820","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:45:46Z","timestamp":1751525146000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,7]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/pde.15820"],"URL":"https:\/\/doi.org\/10.1111\/pde.15820","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,7]]},"assertion":[{"value":"2024-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}