{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T04:56:36Z","timestamp":1775883396347,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["R01AR068392"],"award-info":[{"award-number":["R01AR068392"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (\n                    <jats:italic>DSP<\/jats:italic>\n                    ). We report two cases of EKC with novel\n                    <jats:italic>de novo<\/jats:italic>\n                    missense\n                    <jats:italic>DSP<\/jats:italic>\n                    variants at phenylalanine position 590 (F590S and F590V), expanding the mutational spectrum beyond proline substitutions. Immunostaining demonstrated disrupted desmosomal protein localization. One patient showed significant clinical improvement with ustekinumab therapy. These findings underscore the need for early cardiac monitoring and support IL\u201012\/23p40 inhibition as a potential therapeutic strategy in EKC.\n                  <\/jats:p>","DOI":"10.1111\/pde.70048","type":"journal-article","created":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T05:30:00Z","timestamp":1760506200000},"page":"444-447","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Erythrokeratodermia\u2010Cardiomyopathy Syndrome: Expanding the\n                    <i>DSP<\/i>\n                    Mutational Spectrum Beyond Proline Substitutions"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4670-8082","authenticated-orcid":false,"given":"Sepideh","family":"Hamzehlou","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9666-4394","authenticated-orcid":false,"given":"Ryland D.","family":"Mortlock","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University, School of Medicine  New Haven Connecticut USA"},{"name":"Department of Genetics Yale University, School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Echeandia\u2010Francis","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University, School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University, School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1838-0502","authenticated-orcid":false,"given":"Chao","family":"Xing","sequence":"additional","affiliation":[{"name":"McDermott Center for Human Growth and Development University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Bioinformatics University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Population and Data Sciences University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3915-6841","authenticated-orcid":false,"given":"Nnenna G.","family":"Agim","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"North Dallas Dermatology Associates  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1010-6354","authenticated-orcid":false,"given":"Keith A.","family":"Choate","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University, School of Medicine  New Haven Connecticut USA"},{"name":"Department of Genetics Yale University, School of Medicine  New Haven Connecticut USA"},{"name":"Department of Pathology Yale University, School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0866-770X","authenticated-orcid":false,"suffix":"II","given":"Donald A.","family":"Glass","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"McDermott Center for Human Growth and Development University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-394311-8.00005-4"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv481"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2017.10.026"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951121004108"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14478"}],"container-title":["Pediatric 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