{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T14:20:21Z","timestamp":1702995621228},"reference-count":12,"publisher":"Springer Publishing Company","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2022,3,1]]},"abstract":"<jats:p>Incontinentia pigmenti (IP) is a rare X-linked neuroectodermal dysplasia affecting the skin, hair, teeth, nails, microvasculature, and central nervous system. Mutations in the <jats:italic>IKBKG<\/jats:italic> gene cause this disorder. Incontinentia pigmenti is found in 65\u201375 percent sporadic mutations and 25\u201335 percent familial cases. Most patients are female, as the disease is generally lethal in males. The condition often is identified secondary to skin presentations followed by the central nervous system (CNS) manifestations in the eye and brain within the first year of life. In addition to the skin changes, there may be defects in the hair, nails, and teeth. The uniqueness of the disorder and shared findings similar to other skin disorders complicate the diagnosis. Clinical findings point to an array of possibilities. Lack of information on family history complicates the time to diagnosis. With the confirmation of IP, a thorough evaluation with appropriate consultations improves outcomes where possible.<\/jats:p>","DOI":"10.1891\/11-t-725","type":"journal-article","created":{"date-parts":[[2022,3,8]],"date-time":"2022-03-08T17:41:23Z","timestamp":1646761283000},"page":"89-93","source":"Crossref","is-referenced-by-count":1,"title":["Incontinentia Pigmenti: X-Linked Skin Disorder: A Case Report"],"prefix":"10.1891","volume":"41","author":[{"given":"Laurie","family":"Gelardi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"793","published-online":{"date-parts":[[2022,3,8]]},"reference":[{"key":"2022030809400611000_41.2.89.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2017.04.026"},{"key":"2022030809400611000_41.2.89.2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12223"},{"issue":"6","key":"2022030809400611000_41.2.89.3","doi-asserted-by":"crossref","first-page":"P.e45","DOI":"10.1016\/j.pedhc.2017.07.003","article-title":"Incontinentia pigmenti: a summary review of this rare ectodermal dysplasia with neurologic manifestations, including treatment protocols","volume":"31","year":"2017","journal-title":"J Pediatr Health Care"},{"key":"2022030809400611000_41.2.89.4","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13140"},{"key":"2022030809400611000_41.2.89.5","unstructured":"Hiromel de Silva VN. 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WebMD; 2019. http:\/\/emedicine.medscape.com\/article\/1114205-clinical."},{"issue":"6","key":"2022030809400611000_41.2.89.8","doi-asserted-by":"crossref","first-page":"940","DOI":"10.4103\/ijo.IJO_760_18","article-title":"Retinopathy in incontinentia pigmenti","volume":"67","year":"2019","journal-title":"Indian J Ophthalmol"},{"issue":"1","key":"2022030809400611000_41.2.89.9","doi-asserted-by":"crossref","first-page":"e87771","DOI":"10.1371\/journal.pone.0087771","article-title":"Incontinentia pigmenti: Learning disabilities are a fundamental hallmark of the disease","volume":"9","year":"2014","journal-title":"PLoS One"},{"issue":"10","key":"2022030809400611000_41.2.89.10","first-page":"944","article-title":"Incontentia pigmenti: Treatment by IP with topical tacrolimus","volume":"8","year":"2009","journal-title":"J Drugs Dermatol"},{"key":"2022030809400611000_41.2.89.11","doi-asserted-by":"publisher","DOI":"10.1177\/0271678X19865917"},{"key":"2022030809400611000_41.2.89.12","unstructured":"National Foundation for Ectodermal Dysplasias. org: Incontinentia pigmenti researchers to study heart problems. https:\/\/www.nfed.org\/blog\/incontinentia-pigmenti-researchers-study-heart-problems\/"}],"container-title":["Neonatal Network"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1891\/11-T-725","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,8]],"date-time":"2022-03-08T17:42:08Z","timestamp":1646761328000},"score":1,"resource":{"primary":{"URL":"http:\/\/connect.springerpub.com\/lookup\/doi\/10.1891\/11-T-725"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,1]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,3,8]]},"published-print":{"date-parts":[[2022,3,1]]}},"alternative-id":["10.1891\/11-T-725"],"URL":"https:\/\/doi.org\/10.1891\/11-t-725","relation":{},"ISSN":["0730-0832","1539-2880"],"issn-type":[{"value":"0730-0832","type":"print"},{"value":"1539-2880","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,1]]}}}