{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T16:17:50Z","timestamp":1776269870442,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,30]],"date-time":"2015-03-30T00:00:00Z","timestamp":1427673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Authority for Research and Development"},{"DOI":"10.13039\/501100003483","name":"Hebrew University of Jerusalem","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003483","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Hadassah-Hebrew University Joint Research Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in various desmosomal proteins were shown to cause inherited forms of cardiomyopathy. Carvajal syndrome (Online Mendelian Inheritance in Man [<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content>] 605676) is characterized by the association of dilated cardiomyopathy, striate palmoplantar keratoderma, and woolly hair. It is caused by homozygous as well as heterozygous mutations in <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content>, which encodes the desmosomal plaque protein desmoplakin. An overlapping cardiocutaneous phenotype was also described with homozygous mutations in genes encoding two other desmosomal proteins; plakoglobin (Naxos disease; <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 601214) and desmocollin\u20102 (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 610476).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed clinical and molecular workups in two consanguineous Arab Palestinian families manifesting an autosomal recessive pattern of inheritance of the above mentioned clinical findings. Whole exome sequencing was employed in the search for the causing mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Affected family members suffered from biventricular involvement and arrhythmogenic right ventricular dysplasia based on echocardiography and magnetic resonance imaging. One patient who underwent implantation of an implantable cardioverter\u2010defibrillator (<jats:styled-content style=\"fixed-case\">ICD<\/jats:styled-content>) is still alive at the age of 59\u00a0years. Whole exome sequencing revealed two novel homozygous mutations in <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content>, each affecting one family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The association of woolly hair with palmoplantar keratoderma in a child should lead to a cardiac workup in the search for those at increased risk for sudden cardiac death. Early diagnosis and <jats:styled-content style=\"fixed-case\">ICD<\/jats:styled-content> implantation may be lifesaving. Whole exome sequencing should be utilized for rapid genetic analysis since the cardiocutaneous phenotype may result from mutations in one of several genes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.12541","type":"journal-article","created":{"date-parts":[[2015,3,30]],"date-time":"2015-03-30T13:42:50Z","timestamp":1427722970000},"page":"641-646","source":"Crossref","is-referenced-by-count":23,"title":["Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome"],"prefix":"10.1111","volume":"32","author":[{"given":"Vered","family":"Molho\u2010Pessach","sequence":"first","affiliation":[{"name":"Department of Dermatology Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"},{"name":"Center for Genetic Diseases of the Skin and Hair Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sivan","family":"Sheffer","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rula","family":"Siam","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spiro","family":"Tams","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Palestinian Al Quds University Abu Dis Palestinian Authority"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ihab","family":"Siam","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rula","family":"Awwad","sequence":"additional","affiliation":[{"name":"Caritas Baby Hospital Bethlehem Palestinian Authority"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Babay","sequence":"additional","affiliation":[{"name":"Center for Genetic Diseases of the Skin and Hair Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julius","family":"Golender","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Simanovsky","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval","family":"Ramot","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"},{"name":"Center for Genetic 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