{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T12:37:52Z","timestamp":1779885472667,"version":"3.53.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,5,6]],"date-time":"2022-05-06T00:00:00Z","timestamp":1651795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to <jats:italic>XPC<\/jats:italic> mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in <jats:italic>USB1<\/jats:italic> led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.<\/jats:p>","DOI":"10.1111\/pde.15007","type":"journal-article","created":{"date-parts":[[2022,5,6]],"date-time":"2022-05-06T12:54:18Z","timestamp":1651841658000},"page":"609-612","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel <scp><i>USB1<\/i><\/scp> mutation"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0270-2941","authenticated-orcid":false,"given":"Malina Yamashita","family":"Peterson","sequence":"first","affiliation":[{"name":"University of Minnesota Medical School  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke","family":"Hanson","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7871-1836","authenticated-orcid":false,"given":"Ingrid","family":"Polcari","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Minnesota  Minneapolis Minnesota USA"},{"name":"Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102012\u201012\u2010471367"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2019.00116"},{"key":"e_1_2_6_4_1","first-page":"131","article-title":"Immune deficient poikiloderma \u2013 a new genodermatosis","volume":"49","author":"Clericuzio C","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2010.09929.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010017\u20100385\u20107"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e31829f35e7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2011.01513.x"},{"key":"e_1_2_6_9_1","volume-title":"GeneReviews\u00ae","author":"Wang L","year":"2017"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32524"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102230.1999.00530.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq371"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u20107"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525\u20101470.2001.01971.x"},{"issue":"3","key":"e_1_2_6_15_1","first-page":"331","article-title":"Clericuzio\u2010type Poikiloderma with neutropenia syndrome in a Turkish family: a three report of siblings with mutation in the C16orf57 gene","volume":"14","author":"Patiroglu T","year":"2015","journal-title":"Iran J Allergy Asthma Immunol"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.147769"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13645"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12016"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15007","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.15007","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15007","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T04:06:38Z","timestamp":1692677198000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,6]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1111\/pde.15007"],"URL":"https:\/\/doi.org\/10.1111\/pde.15007","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,6]]},"assertion":[{"value":"2021-06-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}