{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T19:29:58Z","timestamp":1788377398629,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,12,26]],"date-time":"2012-12-26T00:00:00Z","timestamp":1356480000000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolytic palmoplantar keratoderma (<jats:styled-content style=\"fixed-case\">EPPK<\/jats:styled-content>), an autosomal\u2010dominant genodermatosis, is the most frequently occurring hereditary palmoplantar keratoderma. <jats:styled-content style=\"fixed-case\">EPPK<\/jats:styled-content> is characterized by hyperkeratosis of the palms and soles. Approximately 90% of patients present with mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>9<\/jats:italic> gene, which encodes for keratin 9. Many of these mutations are located within the highly conserved coil 1A region of the alpha\u2010helical rod domain of keratin 9, an important domain for keratin heterodimerization. The objective was to assess the clinical and molecular characteristics of a <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>exican family with <jats:styled-content style=\"fixed-case\">EPPK<\/jats:styled-content>. The clinical characteristics of members of this family were analyzed. The <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>9<\/jats:italic> gene of affected members was polymerase chain reaction amplified from genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> and sequenced. All affected members of the family had hyperkeratosis of the palms and soles with knuckle pads. The <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>163<jats:styled-content style=\"fixed-case\">W<\/jats:styled-content> mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>9<\/jats:italic> gene was present in all affected individuals who were tested. Although <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>163<jats:styled-content style=\"fixed-case\">W<\/jats:styled-content> is the most frequent <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>9<\/jats:italic> mutation in patients with <jats:styled-content style=\"fixed-case\">EPPK<\/jats:styled-content>, only two families have been reported with knuckle pads associated with this mutation. Our findings indicate that knuckle pads can be associated with <jats:styled-content style=\"fixed-case\">EPPK<\/jats:styled-content> and the <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>163<jats:styled-content style=\"fixed-case\">W<\/jats:styled-content> mutation in a family with a genetic background different from that described here.<\/jats:p>","DOI":"10.1111\/pde.12027","type":"journal-article","created":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T01:49:03Z","timestamp":1356572943000},"page":"354-358","source":"Crossref","is-referenced-by-count":9,"title":["Analysis of the <i><scp>KRT<\/scp>9<\/i> Gene in a Mexican Family with Epidermolytic Palmoplantar Keratoderma"],"prefix":"10.1111","volume":"30","author":[{"given":"Jaime","family":"Lopez\u2010Valdez","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City DF M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Refugio","family":"Rivera\u2010Vega","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City DF M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luz Maria","family":"Gonzalez\u2010Huerta","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City DF M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Cazarin","sequence":"additional","affiliation":[{"name":"Servicio de Dermatolog\u00eda Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City DF M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Cuevas\u2010Covarrubias","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City DF M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1997.tb03776.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2004.09.005"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1610-0387.2009.07058_supp.x"},{"key":"e_1_2_5_5_1","first-page":"363","article-title":"Queratodermias palmoplantares","volume":"3","author":"Moreno 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