{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T20:10:54Z","timestamp":1793045454025,"version":"4.5.0"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:00:00Z","timestamp":1760745600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Helsinki University Hospital","award":["TYH2023209"],"award-info":[{"award-number":["TYH2023209"]}]},{"name":"Helsinki University Hospital","award":["Y780022070"],"award-info":[{"award-number":["Y780022070"]}]},{"name":"Helsinki University Hospital","award":["Y2020SK004"],"award-info":[{"award-number":["Y2020SK004"]}]},{"name":"Helsinki University Hospital","award":["Y242SK2403"],"award-info":[{"award-number":["Y242SK2403"]}]},{"name":"Helsinki University Hospital","award":["Y1016SK104"],"award-info":[{"award-number":["Y1016SK104"]}]},{"name":"Helsinki University Hospital","award":["TYH2023213"],"award-info":[{"award-number":["TYH2023213"]}]},{"name":"Helsinki University Hospital","award":["TYH2022209"],"award-info":[{"award-number":["TYH2022209"]}]},{"DOI":"10.13039\/100010746","name":"the Finnish Dermatological Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010746","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004756","name":"Emil Aaltonen foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004756","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008723","name":"Finnish Medical Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008723","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003125","name":"Finnish Cultural Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003125","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004012","name":"Jane and Aatos Erkko Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010133","name":"Aarne Koskelo Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010133","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005633","name":"Finnish Foundation for Cardiovascular Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pathogenic heterozygous desmoplakin (DSP) variants cause arrhythmogenic cardiomyopathy, predisposing to sudden cardiac death, and occasionally are found in dermatology patients with palmoplantar epidermal differentiation disorders (pEDDs) and curly\/woolly hair. DSP variants of uncertain significance (VUS) in patients with pEDD complicate cardiac risk assessment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To characterize cardiocutaneous phenotypes associated with heterozygous DSP variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We enrolled 45 heterozygous DSP carriers [aged 2\u201380\u2005years; 18 probands followed for cardiomyopathy (n = 16) or pEDD (n = 2) and 27 family members] and 10 family members who were noncarriers from 18 families at Helsinki University Hospital, Finland. Genetic, cardiac and dermatological evaluations included next-generation sequencing panels, whole exome or Sanger sequencing, laboratory tests, electrocardiography, echocardiography, cardiac magnetic resonance imaging, skin histology, immunohistochemistry and hair microscopy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Seventeen DSP variants (10 pathogenic\/likely pathogenic, 7 VUS) were identified. Fifteen were newly associated with pEDD, including six also new for cardiomyopathy. Characteristic focal hyperkeratosis around heel rims and outer edges of soles (DSP-pEDD) was observed in 86% (36\/42) of carriers, accompanied by palmar hyperkeratosis (36%, 15\/42), pEDD-related pain (59%, 16\/27), aquagenic whitening (58%, 19\/33) and curly\/wavy hair (57%, 24\/42). Cardiac abnormalities occurred in 72% (31\/43), with 60% (26\/43) meeting cardiomyopathy criteria, 44% (19\/43) exhibiting arrhythmias, and 16% (7\/43) requiring resuscitation. VUS-associated phenotypes were similar to pathogenic\/likely pathogenic variants. Onset of pEDD (median 13\u2005years, range 1.5\u201370\u2005years) preceded cardiomyopathy by three decades. Cardiac abnormalities affected 10% (3\/29) of adults with pEDD by age 30, 52% (15\/29) by age 50 and 83% (24\/29) by age 70\u2005years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Heterozygous DSP variants cause childhood-onset focal pEDD preceding midlife-onset arrhythmogenic cardiomyopathy. Genetic testing is essential in pEDD and cardiac evaluation in patients with DSP variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ced\/llaf443","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T12:11:18Z","timestamp":1760616678000},"page":"263-272","source":"Crossref","is-referenced-by-count":1,"title":["<i>DSP<\/i>\n                    -palmoplantar epidermal differentiation disorder: a\u00a0distinct phenotype and red flag for cardiomyopathy"],"prefix":"10.1093","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5182-9455","authenticated-orcid":false,"given":"Eveliina","family":"Brandt","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergology, ERN-Skin Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6244-1969","authenticated-orcid":false,"given":"Krista","family":"Heli\u00f6","sequence":"additional","affiliation":[{"name":"Heart and Lung Center, ERN GUARD-Heart Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liisa","family":"Harjama","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, ERN-Skin Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sini","family":"Weckstr\u00f6m","sequence":"additional","affiliation":[{"name":"Heart and Lung Center, ERN GUARD-Heart Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"Elomaa","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Helsinki, Finland and Research Programs Unit, Stem Cells and Metabolism Research Program, University of Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7402-461X","authenticated-orcid":false,"given":"Kaisa","family":"Kettunen","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katriina","family":"Lappalainen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, ERN-Skin Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3360-6645","authenticated-orcid":false,"given":"Nelli","family":"Sj\u00f6blom","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, ERN-Skin Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miia","family":"Holmstr\u00f6m","sequence":"additional","affiliation":[{"name":"Radiology, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital , Helsinki ,","place":["Finland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9092-7763","authenticated-orcid":false,"given":"Tiina","family":"Ojala","sequence":"additional","affiliation":[{"name":"Department of Paediatric Cardiology, Children\u2019s Hospital, ERN GUARD-Heart Center, University of Helsinki and Helsinki 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