{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T04:20:08Z","timestamp":1770956408590,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T00:00:00Z","timestamp":1745712000000},"content-version":"vor","delay-in-days":0,"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":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Poikiloderma with neutropenia (PN) is a rare autosomal recessive disorder characterized by skin abnormalities, chronic neutropenia, and an increased risk of infections and malignancies. Patients typically present with poikiloderma, which includes hypopigmented and hyperpigmented macules, telangiectasia, atrophy, as well as nail thickening and palmoplantar hyperkeratosis. The condition is caused by pathogenic variants in the\n                    <jats:italic>USB1<\/jats:italic>\n                    gene, which affects neutrophil function and immune response. Endocrine involvement, such as hypogonadism, may also occur. We present a 17\u2010year\u2010old male with a novel\n                    <jats:italic>USB1<\/jats:italic>\n                    gene mutation (c.368T&gt;C [p.Leu123Pro]), who exhibited typical dermatological features, including poikiloderma, nail thickening, and calcinosis cutis, in addition to hypogonadism. This case highlights the broad clinical spectrum of PN and the need for comprehensive care and surveillance.\n                  <\/jats:p>","DOI":"10.1111\/pde.15970","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T03:00:16Z","timestamp":1745809216000},"page":"1227-1230","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Poikiloderma With Neutropenia due to Novel\n                    <i>USB1<\/i>\n                    Mutation"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3438-8844","authenticated-orcid":false,"given":"Kerem","family":"Balan","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology, School of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9745-1331","authenticated-orcid":false,"given":"Basak","family":"Yalici\u2010Armagan","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, School of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1137-5399","authenticated-orcid":false,"given":"Neslihan","family":"Akdogan","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, School of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7831-067X","authenticated-orcid":false,"given":"Yavuz","family":"Sahin","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology National Institutes of Health (NIH)  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Furkan","family":"Turk","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, School of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5040-2476","authenticated-orcid":false,"given":"Sibel","family":"Ersoy\u2010Evans","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, School of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,27]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"GeneReviews((R))","author":"Wang L.","year":"2024"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010018\u20100508\u20109"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13645"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abj8379"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.05.007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14811"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010020\u201000815\u20105"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15970","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T02:59:50Z","timestamp":1764125990000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15970"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,27]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1111\/pde.15970"],"URL":"https:\/\/doi.org\/10.1111\/pde.15970","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,27]]},"assertion":[{"value":"2024-11-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}