{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:07Z","timestamp":1791894187051,"version":"4.3.4"},"reference-count":44,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,7,21]],"date-time":"2013-07-21T00:00:00Z","timestamp":1374364800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p>In 1993 diagnostic criteria for incontinentia pigmenti (<jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content>), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, <jats:italic><jats:styled-content style=\"fixed-case\">IKBKG<\/jats:styled-content><\/jats:italic> gene mutation was discovered as a cause for <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content>. This finding has not been included in <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> diagnostic criteria. Literature facts concerning <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> diagnosis were analyzed. Different organ anomalies, their frequency and severity, were analyzed in the context of applicability as <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> diagnostic criteria. Taking into account analyzed data from the literature, the proposal of updated <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> diagnostic criteria was presented. We propose as major criteria one of the stages of <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> skin lesions. As updated <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> minor criteria in our proposal we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast and nipple anomalies; multiple male miscarriages, and <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> pathohistological findings. In the diagnosis of <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content>, the presence of <jats:italic><jats:styled-content style=\"fixed-case\">IKBKG<\/jats:styled-content><\/jats:italic> mutation typical for <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content>, and existence of family relatives with diagnosed <jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content> are taken into account.<\/jats:p>","DOI":"10.1111\/cge.12223","type":"journal-article","created":{"date-parts":[[2013,6,26]],"date-time":"2013-06-26T18:26:01Z","timestamp":1372271161000},"page":"536-542","source":"Crossref","is-referenced-by-count":148,"title":["Incontinentia pigmenti diagnostic criteria update"],"prefix":"10.1111","volume":"85","author":[{"given":"S.","family":"Mini\u0107","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Trpinac","sequence":"additional","affiliation":[{"name":"Institute of Histology and Embryology School of Medicine, University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Obradovi\u0107","sequence":"additional","affiliation":[{"name":"Institute of Histology and Embryology School of Medicine, University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,21]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Orphanet Report Series. Prevalence of rare diseases: Bibliographic data.2012 fromhttp:\/\/www.orpha.net\/orphacom\/cahiers\/docs\/GB\/Prevalence_of_rare_diseases_by_alphabetical_list.pdf. Accessed February 20 2013."},{"key":"e_1_2_6_3_1","unstructured":"ScheuerleA UrsiniMV. Incontinentia pigmenti (Bloch\u2013Sulzberger syndrome). University of Washington Seattle (WA): GeneReviews2008 fromhttp:\/\/www.ncbi.nlm.nih.gov\/bookshelf\/br.fcgi?book=gene&part=i\u2010p. Accessed February 20 2013."},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.53"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20108\u201025"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/35013114"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.149.5.999"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00784\u2010012\u20100721\u20105"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.227"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00784\u2010006\u20100066\u2010z"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2010.01.045"},{"key":"e_1_2_6_12_1","first-page":"309","volume-title":"Management of genetic syndromes","author":"Donnai D","year":"2005"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.139.9.1163"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600\u20100560.2009.01206.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2002.125949"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-60327-161-5_103"},{"key":"e_1_2_6_17_1","volume-title":"The natural history of incontinentia pigmenti as reported by 198 affected individuals. Abstract 38","author":"Badgwell AL","year":"2007"},{"key":"e_1_2_6_18_1","first-page":"350","article-title":"Delayed onychodystrophy of incontinentia pigmenti: an evidence\u2010based review of epidemiology, diagnosis and management","volume":"9","author":"Chun BS","year":"2010","journal-title":"J Drugs Dermatol"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1976.01630280059017"},{"key":"e_1_2_6_20_1","first-page":"1049","volume-title":"Human malformations and related anomalies","author":"Boyd E","year":"2006"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh192"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102230.2005.01848.x"},{"key":"e_1_2_6_23_1","first-page":"1345","article-title":"Incontinentia pigmenti\u2014a rare disease with many symptoms","volume":"99","author":"Holmstr\u00f6m G","year":"2002","journal-title":"Lakartidningen"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.6.748"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600\u20100420.2000.078003348.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2006.21.3.474"},{"key":"e_1_2_6_27_1","first-page":"239","article-title":"Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients","volume":"21","author":"Pascual\u2010Castroviejo I","year":"2006","journal-title":"Neurologia"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.2298\/SARH1008408M"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006982-200308000-00030"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006982-199801000-00016"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161\u20106420(93)31422\u20103"},{"key":"e_1_2_6_32_1","first-page":"825","volume-title":"Fetal and neonatal pathology","author":"Yee KT","year":"2007"},{"key":"e_1_2_6_33_1","first-page":"1301","article-title":"Improved national prevalence estimates for 18 selected major birth defects\u2014United States, 1999\u20132001","volume":"54","author":"Centers for Disease Control and Prevention (CDC)","year":"2006","journal-title":"MMWR Morb Mortal Wkly Rep"},{"key":"e_1_2_6_34_1","first-page":"297","volume-title":"Human malformations and related anomalies","author":"Traboulsi EI","year":"2006"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1501"},{"key":"e_1_2_6_36_1","unstructured":"EUROCAT Prevalence Data Tables 2013fromhttp:\/\/www.eurocat\u2010network.eu\/prevdata\/resultsPdf.aspx?title=B3&allanom=false&allregf=true&allrega=true&anomalies=8&winx=1256&winy=894. Accessed on February 20 2013."},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528\u20101167.2006.00633.x"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/1824\u20107288\u201036\u201017"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102249.2002.01755.x"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2009.074203"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr556"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1086\/324591"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20101593"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20739"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1777"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12223","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12223","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T23:15:00Z","timestamp":1696288500000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,21]]},"references-count":44,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1111\/cge.12223"],"URL":"https:\/\/doi.org\/10.1111\/cge.12223","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,21]]}}}