{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:39:39Z","timestamp":1791319179035,"version":"4.3.1"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,10]],"date-time":"2013-05-10T00:00:00Z","timestamp":1368144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Focal palmoplantar keratoderma (<jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>) with severe pain is a hallmark of pachyonychia congenita, a rare autosomal dominant disorder involving <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> and hypertrophic nail dystrophy. Some families present focal <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> with either minimal or no nail changes. Dominant\u2010negative mutations in any of the four identified keratin genes, <jats:styled-content style=\"fixed-case\"><jats:italic>KRT6A<\/jats:italic><\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> <jats:italic>KRT6B<\/jats:italic><\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> <jats:italic>KRT16<\/jats:italic><\/jats:styled-content> or <jats:styled-content style=\"fixed-case\"><jats:italic>KRT17<\/jats:italic><\/jats:styled-content>, lead to pachyonychia congenita. However, the majority of families with focal <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> showing minimal or no nail changes do not harbor mutations in these genes. Recently, mutations of <jats:styled-content style=\"fixed-case\"><jats:italic>KRT6C<\/jats:italic><\/jats:styled-content> were identified in families with focal <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> alone. Here, we report a 26\u2010year\u2010old Japanese man with focal plantar hyperkeratosis that developed at approximately 10\u00a0years of age with no palmar involvement and no nail alterations. We identified a missense <jats:styled-content style=\"fixed-case\"><jats:italic>KRT6C<\/jats:italic><\/jats:styled-content> mutation c.1414G&gt;A resulting in an p.Glu472Lys substitution, as reported in other Japanese patients. When the mutant keratin 6c protein is exogenously expressed in human <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>a<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>a<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> cells, a collapse of the keratin filament network is observed in a dose\u2010dependent manner, suggesting the mutation has a dominant\u2010negative effect on keratin filament network formation. The mutated residue is located at the helix termination motif of keratin 6c. The peptide sequence around this residue is highly conserved among type II, III and IV intermediate filament proteins. Glu to Lys mutations of the equivalent residue have been reported in a variety of inherited diseases, including neurodegenerative diseases, corneal dystrophy and skin disorders, suggesting that this residue is vital to keratin function.<\/jats:p>","DOI":"10.1111\/1346-8138.12185","type":"journal-article","created":{"date-parts":[[2013,5,10]],"date-time":"2013-05-10T18:23:05Z","timestamp":1368210185000},"page":"553-557","source":"Crossref","is-referenced-by-count":5,"title":["Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma"],"prefix":"10.1111","volume":"40","author":[{"given":"Akiharu","family":"Kubo","sequence":"first","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"Center for Integrated Medical Research Keio University School of Medicine Tokyo 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