{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:06:45Z","timestamp":1747184805048,"version":"3.40.5"},"reference-count":43,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T00:00:00Z","timestamp":1615334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Incontinentia pigmenti (IP) is a rare X\u2010linked skin disease caused by mutations in the <jats:italic>IKBKG<\/jats:italic> gene, which is required for activation of the nuclear factor\u2010kappa B signalling pathway. Multiple systems can be affected with highly variable phenotypic expressivity. We aimed to clarify the clinical characteristics observed in molecularly confirmed Korean IP patients. The medical records of 25 females confirmed as IP by molecular genetic analysis were retrospectively reviewed. The phenotypic score of extracutaneous manifestations was calculated to assess the disease severity. The <jats:italic>IKBKG<\/jats:italic> gene partial deletion or intragenic mutations were investigated using long\u2010range PCR, multiplex ligation\u2010dependent probe amplification and direct sequencing methods. Among the 25 individuals, 18 (72%) were sporadic cases. All patients showed typical skin manifestations at birth or during the neonatal period. Extracutaneous findings were noted in 17 (68%) patients; ocular manifestations (28%), neurological abnormalities (28%), hair abnormalities (20%), dental anomalies (12%), nail dystrophy (8%). The common exon 4\u201310 <jats:italic>IKBKG<\/jats:italic> deletion was observed in 20 (80%) patients. In addition, five intragenic sequence variants were identified, including three novel variants. The phenotype scores were highly variable, ranging from abnormal skin pigmentation only to one or more extracutaneous features, although no significant difference was observed for each clinical characteristic between the group with sequence variants and that with common large deletion. Our cohort with IP showed heterogeneity of extracutaneous manifestations and high incidence of sporadic cases. Long\u2010term monitoring with multidisciplinary management is essential for evaluating the clinical status, providing adequate genetic counselling and understanding the genotype\u2010phenotype correlation in IP.<\/jats:p>","DOI":"10.1111\/exd.14313","type":"journal-article","created":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T04:22:05Z","timestamp":1614745325000},"page":"676-683","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the <i>IKBKG<\/i> gene"],"prefix":"10.1111","volume":"30","author":[{"given":"Hwa Young","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Beom","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyu Han","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Dermatology Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong Hun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong\u2010Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"},{"name":"Rare Disease Center Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Man Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Rare Disease Center Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"},{"name":"Department of Laboratory Medicine Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moon\u2010Woo","family":"Seong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0407-7828","authenticated-orcid":false,"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"},{"name":"Rare Disease Center Seoul National University Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,10]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"Incontinentia pigmenti.GeneReviews. 2017.https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1472\/. 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