{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T15:41:06Z","timestamp":1789486866299,"version":"build-2803163510"},"reference-count":6,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"abstract":"ABSTRACT<\/jats:title>\n \n PLACK syndrome is a rare genodermatosis that features\n p<\/jats:styled-content>\n eeling skin,\n l<\/jats:styled-content>\n eukonychia,\n a<\/jats:styled-content>\n cral punctal keratoses,\n c<\/jats:styled-content>\n heilitis, and\n k<\/jats:styled-content>\n nuckle pads. We report a case of a 6\u2010year\u2010old female with PLACK syndrome, attributed to a homozygous variant in\n CAST<\/jats:italic>\n , and concurrent dilated cardiomyopathy, explained by a heterozygous variant in\n MYBPC3<\/jats:italic>\n . She also had severe protein calorie malnutrition. Although the patient's cardiomyopathy is attributable to her\n MYBPC3<\/jats:italic>\n variant, this case adds to the growing list of reports describing PLACK syndrome with coinciding cardiomyopathy and highlights a unique presentation featuring both\n CAST<\/jats:italic>\n and\n MYBPC3<\/jats:italic>\n variants.\n <\/jats:p>","DOI":"10.1111\/pde.70343","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T13:27:04Z","timestamp":1789478824000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Concomitant\n PLACK<\/scp>\n Syndrome,\n MYBPC3<\/i>\n \u2010Related Cardiomyopathy, and Nutritional Deficiency"],"prefix":"10.1111","author":[{"given":"Nisrine","family":"Kawa","sequence":"first","affiliation":[{"name":"Department of Dermatology Columbia University Irving Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa M.","family":"LeWitt","sequence":"additional","affiliation":[{"name":"Department of Dermatology Columbia University Irving Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6048-1203","authenticated-orcid":false,"given":"Katharina W.","family":"Horn","sequence":"additional","affiliation":[{"name":"Columbia University Vagelos College of Physicians & Surgeons New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1507-884X","authenticated-orcid":false,"given":"Elaine M.","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Irving Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mythily","family":"Ganapathi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology Columbia University Irving Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly D.","family":"Morel","sequence":"additional","affiliation":[{"name":"Department of Dermatology Columbia University Irving Medical Center New York New York USA"},{"name":"Department of Pediatrics Columbia University Irving Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"e_1_2_1_5_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/0884533612446706"},{"key":"e_1_2_1_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15671"},{"key":"e_1_2_1_5_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes16111292"},{"key":"e_1_2_1_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.16760"},{"key":"e_1_2_1_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15987"},{"key":"e_1_2_1_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.13887"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70343","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.70343","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70343","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T13:27:04Z","timestamp":1789478824000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.70343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,15]]},"references-count":6,"alternative-id":["10.1111\/pde.70343"],"URL":"https:\/\/doi.org\/10.1111\/pde.70343","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,15]]},"assertion":[{"value":"2025-12-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"pde.70343"}}