{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T02:50:43Z","timestamp":1771296643528,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T00:00:00Z","timestamp":1558483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007914","name":"University of Texas Southwestern Medical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007914","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Incontinentia Pigmenti (IP; MIM 308300) is an X\u2010linked dominant genodermatosis caused by pathogenic variant in <jats:italic>IKBKG<\/jats:italic>. The phenotype in adults is poorly described compared to that in children. Questionnaire survey of 99 affected women showed an age at diagnosis from newborn to 41\u2009years, with 53 diagnosed by 6 months of age and 30 as adults. Stage I, II, and III lesions persisted in 16%, 17%, and 71%, respectively, of those who had ever had them. IP is allelic to two forms of ectodermal dysplasia. Many survey respondents reported hypohidrosis and\/or heat intolerance and most had Stage IV findings. This suggests that \u201cStage IV\u201d may be congenitally dysplastic skin that becomes more noticeable with maturity. Fifty\u2010one had dentures or implants with 26 having more invasive jaw or dental surgery. Half had wiry or uncombable hair. Seventy\u2010three reported abnormal nails with 27 having long\u2010term problems. Cataracts and retinal detachment were the reported causes of vision loss. Four had microphthalmia. Respondents without genetic confirmation of IP volunteered information suggesting more involved phenotype or possibly misassigned diagnosis. Ascertainment bias likely accounts for the low prevalence of neurocognitive problems in the respondents.<\/jats:p>","DOI":"10.1002\/ajmg.a.61205","type":"journal-article","created":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T06:30:46Z","timestamp":1558593046000},"page":"1415-1419","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Incontinentia pigmenti in adults"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9025-3276","authenticated-orcid":false,"given":"Angela E.","family":"Scheuerle","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of Texas Southwestern Medical Center  Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.19.2171"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.it.2004.03.008"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-93"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/08830185.2015.1055331"},{"key":"e_1_2_8_6_1","first-page":"216","article-title":"Peculiar pigmentation of the skin in an infant","volume":"39","author":"Garrod A. 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