{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:33:28Z","timestamp":1762079608749,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T00:00:00Z","timestamp":1502236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"KAKENHI","award":["26461675"],"award-info":[{"award-number":["26461675"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Incontinentia pigmenti (<jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content>) is an X\u2010linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>)\u2010\u03baB essential modulator (<jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content>), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (<jats:styled-content style=\"fixed-case\">IKBKG<\/jats:styled-content>), constitutes an essential activator of <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>\u2010\u03baB. Over 80% of female patients with <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> carry a common deletion mutation involving exons 4\u201310 of the <jats:italic><jats:styled-content style=\"fixed-case\">IKBKG<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">NEMO<\/jats:styled-content><\/jats:italic> gene. We present the case of a male infant (<jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>) with <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> with no concomitant complications. Polymerase chain reaction (<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>) assay showed that the exon 4\u201310 deletion band was significantly stronger in the skin sample than in blood. Subsequently, long\u2010range <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> was performed periodically to confirm the spontaneous regression of mutant cells from his blood. Over a period of 6 years, the 2.6\u2010kb mutant band gradually became weaker, but we did not confirm complete regression. Our patient was a healthy, 8\u2010year\u2010old male child with no complications despite the presence of a 2.6\u2010kb mutant band in his blood. Further follow up is necessary to assess for complications that may develop later.<\/jats:p>","DOI":"10.1111\/1346-8138.14002","type":"journal-article","created":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T05:22:43Z","timestamp":1502256163000},"page":"100-103","source":"Crossref","is-referenced-by-count":8,"title":["Incontinentia pigmenti in a male (<scp>XY<\/scp>) infant with long\u2010term follow up over 8 years"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6574-9328","authenticated-orcid":false,"given":"Yasushi","family":"Matsuzaki","sequence":"first","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Rokunohe","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoko","family":"Minakawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Nomura","sequence":"additional","affiliation":[{"name":"Nomura Dermatology Clinic  Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etsuro","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Sawamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.12.015"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/35013114"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.889"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10150"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.11.1068"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/324591"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"180","DOI":"10.3928\/0191-3913-19920501-13","article-title":"Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome","volume":"29","author":"Fowell SM","year":"1992","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2021-8"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2007.02.024"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.19.2171"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1593"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37004"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.2310\/7750.2013.13036"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.14002","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:23:17Z","timestamp":1695572597000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.14002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,9]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/1346-8138.14002"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.14002","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2017,8,9]]}}}