{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T03:22:03Z","timestamp":1778901723054,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,9,11]],"date-time":"2012-09-11T00:00:00Z","timestamp":1347321600000},"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":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese patient with <jats:styled-content style=\"fixed-case\">PCWH<\/jats:styled-content>, a neurological variant of <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>aardenburg type 4. Direct sequencing of the genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> obtained from peripheral leukocytes revealed the p.<jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content>377<jats:styled-content style=\"fixed-case\">X<\/jats:styled-content> nonsense mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">SOX<\/jats:styled-content>10<\/jats:italic> gene. The patient had mottled hypopigmented macules on the trunk since birth; such macules have not been described previously. The so\u2010called \u201cwhite forelock\u201d, a triangular or diamond shaped leukoderma on the forehead, was absent. We also reviewed and summarized the outcomes of 23 patients with <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>aardenburg syndrome type 4, <jats:styled-content style=\"fixed-case\">PCWH<\/jats:styled-content> and Yemenite deaf\u2013blind hypopigmentation syndrome, in which <jats:italic><jats:styled-content style=\"fixed-case\">SOX<\/jats:styled-content>10<\/jats:italic> mutations were identified. Among them, 17 cases were reported to have hypopigmented skin macule(s). The five patients who had the white forelock had <jats:styled-content style=\"fixed-case\">PCWH<\/jats:styled-content> with severe neurological complications. Paradoxically, two cases had hyperpigmented spots. Heterochromia of the iris was reported in four patients.<\/jats:p>","DOI":"10.1111\/j.1346-8138.2012.01671.x","type":"journal-article","created":{"date-parts":[[2012,9,11]],"date-time":"2012-09-11T10:35:13Z","timestamp":1347359713000},"page":"1022-1025","source":"Crossref","is-referenced-by-count":4,"title":["Pediatric case report: Clinical profile of a patient with <scp>PCWH<\/scp> with p.<scp>Q<\/scp>377<scp>X<\/scp> nonsense mutation in the <i><scp>SOX<\/scp>10<\/i> gene"],"prefix":"10.1111","volume":"39","author":[{"given":"Tomoko","family":"Oshimo","sequence":"first","affiliation":[{"name":"Departments of Dermatology Osaka City University Graduate School of Medicine Osaka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuyoshi","family":"Fukai","sequence":"additional","affiliation":[{"name":"Departments of Dermatology Osaka City University Graduate School of Medicine Osaka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yamagata University School of and Medicine Yamagata"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Hozumi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yamagata University School of and Medicine Yamagata"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiaki","family":"Yokoi","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Osaka City University Graduate School of Medicine Osaka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akemi","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics Osaka City University Graduate School of Medicine 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