{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T23:17:10Z","timestamp":1790637430201,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T00:00:00Z","timestamp":1418688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the desmosomal protein desmoplakin have been associated with various conditions affecting the skin and heart. The prototype is Carvajal syndrome, characterized by cardiomyopathy, woolly hair, palmoplantar keratoderma (<jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>), and skin fragility. We report the case of a 3\u2010year\u2010old boy presenting with severe left\u2010sided heart failure with a preceding history of cutaneous abnormalities including congenital alopecia, <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>, nail dystrophy, and follicular hyperkeratosis on the extensor surfaces. Genetic testing revealed a novel combination of two heterozygous mutations in the <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content> gene encoding desmoplakin: R1400X and R2284X. Both are predicted to be deleterious to protein function. This case adds to our understanding of the spectrum of clinical presentations of syndromes associated with desmoplakin mutations and highlights the need for cardiac examination in patients with characteristic cutaneous findings.<\/jats:p>","DOI":"10.1111\/pde.12484","type":"journal-article","created":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T13:16:56Z","timestamp":1418735816000},"page":"102-108","source":"Crossref","is-referenced-by-count":18,"title":["Early\u2010Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin"],"prefix":"10.1111","volume":"32","author":[{"given":"Nina K.","family":"Antonov","sequence":"first","affiliation":[{"name":"College of Physicians and Surgeons Columbia University New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina Y.","family":"Kingsbery","sequence":"additional","affiliation":[{"name":"Department of Dermatology Columbia University 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