{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T13:10:27Z","timestamp":1778505027738,"version":"3.51.4"},"reference-count":40,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,6]],"date-time":"2022-05-06T00:00:00Z","timestamp":1651795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010133","name":"Aarne Koskelon S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010133","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004012","name":"Jane ja Aatos Erkon S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and\/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. desmoplakin <jats:italic>(DSP)<\/jats:italic>. PPK should trigger genetic testing to reveal mutations with possible related cardiac disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To report a large multigenerational family with a novel <jats:italic>DSP<\/jats:italic> mutation associated with early\u2010onset PPK and adult\u2010onset cardiomyopathy and arrhythmias.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A custom\u2010designed in\u2010house panel of 35 PPK related genes was used to screen mutations in the index patient with focal PPK. The identified <jats:italic>DSP<\/jats:italic> mutation was verified by Sanger sequencing. DNA samples from 20 members of the large multigenerational family were sequenced for the <jats:italic>DSP<\/jats:italic> mutation. Medical records were reviewed. Clinical dermatological evaluation was performed, including light microscopy of hair samples. Cardiac evaluation included clinical examination, echocardiography, cardiac magnetic resonance imaging (CMR), electrocardiogram (ECG), Holter monitoring and laboratory tests.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel autosomal dominant truncating <jats:italic>DSP<\/jats:italic> c.2493delA p.(Glu831Aspfs*33) mutation associated with dilated cardiomyopathy (DCM) with arrhythmia susceptibility and focal PPK as an early cutaneous sign. The mutation was found in nine affected family members, but not in any unaffected members. Onset of dermatological findings preceded cardiac symptoms which were variable and occurred at adult age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report a novel truncating <jats:italic>DSP<\/jats:italic> mutation causing focal PPK with varying severity and left ventricular dilatation and ventricular extrasystoles. This finding emphasizes the importance of genetic diagnosis in patients with PPK for clinical counselling and management of cardiomyopathies and arrhythmias.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.18164","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T08:34:33Z","timestamp":1650530073000},"page":"1349-1358","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign"],"prefix":"10.1111","volume":"36","author":[{"given":"V.","family":"Karvonen","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergology University of Helsinki and Helsinki University Hospital  Helsinki 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