{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T15:36:56Z","timestamp":1778254616607,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To characterize the skin and mucosal findings of NEMO syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective review of clinical characteristics from a cohort of two families with mutations in<jats:italic>IKBKG<\/jats:italic>(the NEMO\u2010encoding gene). A literature review identified 86\u00a0studies describing 192 patients with<jats:italic>IKBKG<\/jats:italic>mutations whose data were also included.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Single center with literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Participants<\/jats:title><jats:p>Patients with mutations in<jats:italic>IKBKG<\/jats:italic>from our center and reported in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcomes and Measures<\/jats:title><jats:p>Skin and mucosal characteristics of patients with NEMO syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In addition to ectodermal dysplasia and recurrent infections, male patients had findings of ichthyosis, palmoplantar keratoderma, and inflammatory skin diseases. Both male and female patients had mucocutaneous ulcers and slow\u2010to\u2010heal chronic wounds. In combination with patients from the literature, 59% (85\/144) of males had ectodermal dysplasia with anhidrosis (EDA) features, and 8% and 10% (12\/144; 6\/63) of males and females had dental findings, respectively. 4% (6\/144) of males and 32% (20\/63) of females had mucocutaneous ulcers. Ichthyosis\/xerosis was present in 15% of males (21\/144) but only 2% (1\/63) females. Similarly, 13% (18\/144) of male patients presented with dermatitis while this was reported in only 2% (1\/63) of females.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results both confirm and expand upon the known spectrum of mucocutaneous findings in NEMO syndrome. Further genetic studies are needed to correlate specific mutations to clinical and morphologic subtypes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.14905","type":"journal-article","created":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T04:04:23Z","timestamp":1641441863000},"page":"84-90","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5031-0643","authenticated-orcid":false,"given":"Lucinda L.","family":"Kohn","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Colorado Denver Colorado USA"},{"name":"Department of Dermatology University of California San Francisco San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2829-689X","authenticated-orcid":false,"given":"Mitchell","family":"Braun","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California San Francisco San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly M.","family":"Cordoro","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California San Francisco San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy H.","family":"McCalmont","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California San Francisco San Francisco California USA"},{"name":"Department of Pathology University of California San Francisco San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0336-4278","authenticated-orcid":false,"given":"Sonal D.","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California San Francisco San Francisco California USA"},{"name":"Department of Dermatology University Hospitals Cleveland Medical Center Case Western Reserve University Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilona J.","family":"Frieden","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California San Francisco San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anubhav N.","family":"Mathur","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California San Francisco San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12103"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2008.08.018"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1518163113"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2009.03.514"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.144.3.342"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.308"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-03-771600"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-008-8085-2"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2014.157"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1155>3.0.CO;2-Y"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/35013114"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-011-9600-0"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-05-354167"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80611-9"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.10.054"},{"key":"e_1_2_9_17_1","unstructured":"PerazzioSF VitorP PereiraS et al.NF\u2010\u03baB pathway is depleted in phagocytes from beh\u00e7et\u00b4s disease patients secondarily to constitutive phosphorylation of The p65 Subunit. 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