{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T00:21:21Z","timestamp":1778372481819,"version":"3.51.4"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T00:00:00Z","timestamp":1716249600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T00:00:00Z","timestamp":1716249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007128","name":"Natural Science Foundation of Shaanxi Province","doi-asserted-by":"publisher","award":["2022JM-606"],"award-info":[{"award-number":["2022JM-606"]}],"id":[{"id":"10.13039\/501100007128","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurosci"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the <jats:italic>IKBKG<\/jats:italic> gene. The pathogenesis of central nervous system injury is believed to be related to microvascular ischemia. Currently, few treatment strategies are available for the inflammatory phase.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Materials and methods<\/jats:title>\n                <jats:p>This retrospective descriptive analysis included the clinical data of 41 children with IP collected from 2007 to 2021 in Xi\u2019an, China, comprising clinical characteristics, imaging findings, blood cell analysis, skin histopathology, and genetic data.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Fourteen children (34%) aged 4\u00a0days to 5\u00a0months exhibited clinical signs and symptoms, including convulsions, delayed psychomotor development following neurological damage, and revealed significant MRI abnormalities, including ischemia, hypoxia, cerebral hypoperfusion, hemorrhage, encephalomalacia, and cerebral atrophy. Eight of the 24 patients (33%) presented with retinal vascular tortuosity and telangiectasis, accompanied by neovascularization and hemorrhage. Thirty-eight children (93%) had elevated eosinophils (mean: 3.63\u2009\u00b1\u20094.46\u2009\u00d7\u200910<jats:sup>9<\/jats:sup>), and 28 children (68%) had significantly elevated platelets (mean: 420.16\u2009\u00b1\u2009179.43\u2009\u00d7\u200910<jats:sup>9<\/jats:sup>). Histopathology of skin revealed microvascular extravasation and vasodilation with perivascular and intravascular eosinophilic infiltration.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Brain injury in IP occurs during infancy until 5\u00a0months of age, which is also the acute dermatitis phase accompanied by eosinophilia and an increased platelet count. This study provides evidence of microvascular damage to the skin and fundus during the inflammatory phase. The mechanism of microvascular damage may be similar to that in the brain.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12868-024-00872-1","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T13:02:17Z","timestamp":1716296537000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Central nervous system anomalies in 41 Chinese children incontinentia pigmenti"],"prefix":"10.1186","volume":"25","author":[{"given":"Li","family":"Yin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengyuan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjuan","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanjie","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Tian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huifang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,5,21]]},"reference":[{"issue":"1","key":"872_CR1","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1136\/jmg.30.1.53","volume":"30","author":"SJ Landy","year":"1993","unstructured":"Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993;30(1):53\u20139.","journal-title":"J Med Genet"},{"key":"872_CR2","volume-title":"Incontinentia pigmenti (Bloch Sulzberger Syndrome) [Updated 2022 Aug 22]","author":"S Yadlapati","year":"2022","unstructured":"Yadlapati S, Tripathy K. Incontinentia pigmenti (Bloch Sulzberger Syndrome) [Updated 2022 Aug 22]. Treasure Island (FL): StatPearls Publishing; 2022."},{"issue":"4","key":"872_CR3","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.ad.2018.10.004","volume":"110","author":"F Cammarata-Scalisi","year":"2019","unstructured":"Cammarata-Scalisi F, Fusco F, Ursini MV. Incontinentia Pigmenti. Actas Dermosifiliogr. 2019;110(4):273\u20138.","journal-title":"Actas Dermosifiliogr"},{"key":"872_CR4","doi-asserted-by":"publisher","first-page":"900606","DOI":"10.3389\/fped.2022.900606","volume":"10","author":"KN How","year":"2022","unstructured":"How KN, Leong HJY, Pramono ZAD, Leong KF, Lai ZW, Yap WH. Uncovering incontinentia pigmenti: from DNA sequence to pathophysiology. Front Pediatr. 2022;10:900606.","journal-title":"Front Pediatr"},{"key":"872_CR5","volume-title":"Incontinentia pigmenti (Synonym: Bloch-Sulzberger Syndrome)","author":"AE Scheuerle","year":"1999","unstructured":"Scheuerle AE, Ursini M. Incontinentia pigmenti (Synonym: Bloch-Sulzberger Syndrome). Seattle: University of Washington; 1999."},{"issue":"2","key":"872_CR6","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1067\/mjd.2002.125949","volume":"47","author":"AL Berlin","year":"2002","unstructured":"Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002;47(2):169\u201387.","journal-title":"J Am Acad Dermatol"},{"key":"872_CR7","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/1750-1172-8-25","volume":"8","author":"S Mini\u0107","year":"2013","unstructured":"Mini\u0107 S, Trpinac D, Obradovi\u0107 M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis. 2013;8:25.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"872_CR8","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/S0929-6646(10)60042-3","volume":"109","author":"PF Hsiao","year":"2010","unstructured":"Hsiao PF, Lin SP, Chiang SS, Wu YH, Chen HC, Lin YC. NEMO gene mutations in Chinese patients with incontinentia pigmenti. J Formosan Med Assoc. 2010;109(3):192\u2013200.","journal-title":"J Formosan Med Assoc"},{"issue":"3","key":"872_CR9","doi-asserted-by":"publisher","first-page":"134","DOI":"10.5021\/ad.2008.20.3.134","volume":"20","author":"JY Song","year":"2008","unstructured":"Song JY, Na CH, Chung BS, Choi KC, Shin BS. A case of a surviving male infant with incontinentia pigmenti. 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Curr Opin Ophthalmol. 2022;33(6):525\u201331.","journal-title":"Curr Opin Ophthalmol"}],"container-title":["BMC Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12868-024-00872-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12868-024-00872-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12868-024-00872-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T13:02:57Z","timestamp":1716296577000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurosci.biomedcentral.com\/articles\/10.1186\/s12868-024-00872-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,21]]},"references-count":25,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["872"],"URL":"https:\/\/doi.org\/10.1186\/s12868-024-00872-1","relation":{},"ISSN":["1471-2202"],"issn-type":[{"value":"1471-2202","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,21]]},"assertion":[{"value":"6 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by Xi'an Jiaotong University Affiliated Children's Hospital review board. Written informed consent was obtained from each patient\u2019s parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All patient\u2019s parents had written informed consent for the personal or clinical details along with any identifying images to be published in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"25"}}