{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:34:21Z","timestamp":1761708861085},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,2,11]],"date-time":"2013-02-11T00:00:00Z","timestamp":1360540800000},"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":[[2013,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Incontinentia pigmenti (<jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content>) is a rare <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked dominant genodermatosis caused by mutations of the <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> gene, which is required for activation of the nuclear factor\u2010\u03ba<jats:styled-content style=\"fixed-case\">B<\/jats:styled-content> signaling pathway. <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> gene rearrangement, exon 4\u201310 deletion, is the most common mutation with a frequency of 60\u201380%. Only four case reports about <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> rearrangement in Japanese <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> cases have been published. In our study, <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> gene rearrangement was examined in 10 <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> patients and their mothers and was revealed in five of 10 patients and three of their mothers. Interestingly, <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> gene rearrangement was confirmed in the mothers of two patients without clinical symptoms; thus, <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> mutation analysis is helpful to detect subclinical <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> patients. The clinical symptoms of recently diagnosed Japanese <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> patients were summarized for examination of the phenotype\u2013genotype relationship and for comparison between those with and without <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> gene rearrangement. Results revealed no definite difference in extracutaneous manifestations between the patients with <jats:italic><jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> rearrangement in our study and in other Japanese <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> patients previously reported in both Japanese and English\u2010language published work. However, there is higher frequency of ocular manifestation in our study than in other reports. Furthermore, evaluation of dental and nail abnormalities was difficult because most of our patients were observed for 1\u00a0year only. Long\u2010term observation is needed for proper evaluation of the clinical status and phenotype\u2013genotype relationship in <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> patients.<\/jats:p>","DOI":"10.1111\/1346-8138.12091","type":"journal-article","created":{"date-parts":[[2013,2,11]],"date-time":"2013-02-11T12:03:10Z","timestamp":1360584190000},"page":"272-276","source":"Crossref","is-referenced-by-count":9,"title":["<i><scp>NEMO<\/scp><\/i> gene rearrangement (exon 4\u201310 deletion) and genotype\u2013phenotype relationship in <scp>J<\/scp>apanese patients with incontinentia pigmenti and review of published work in <scp>J<\/scp>apanese patients"],"prefix":"10.1111","volume":"40","author":[{"given":"Mayuko","family":"Okita","sequence":"first","affiliation":[{"name":"Department of Dermatology Shiga University of Medical Science Otsu 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