{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:24:40Z","timestamp":1782879880499,"version":"3.54.5"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,24]],"date-time":"2022-03-24T00:00:00Z","timestamp":1648080000000},"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":["Experimental Dermatology"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An 82\u2010year\u2010old female patient presented with a recent onset of painful skin lesions in unilateral distribution on the abdominal area following the lines of Blaschko; the initial diagnosis of Varicella\u2010Zoster infection was made. However, because the individual lesions appeared as hyperkeratotic papules and were unresponsive to antiviral therapy, a skin biopsy was performed, which revealed hyperkeratosis, suprabasal acantholysis and dyskeratosis with corps ronds and grains, consistent with acantholytic dyskeratotic acanthoma. Since this entity has been associated with Darier disease, whole\u2010transcriptome sequencing by RNA\u2010Seq was performed on RNA isolated from a lesion and from adjacent normal appearing skin, and a recently developed bioinformatics pipeline that can identify both genomic sequence variants and the presence of any of 926 viruses was applied. Two pathogenic missense mutations in the <jats:italic>ATP2A2<\/jats:italic> gene were identified in the lesional but not in normal appearing skin, and no evidence of Varicella\u2010Zoster infection was obtained. These findings confirm the diagnosis of segmental Darier disease due to postzygotic mutations in the <jats:italic>ATP2A2<\/jats:italic> gene, and attest to the power of a novel single\u2010step application of RNA\u2010Seq in providing correct diagnosis in this rare genodermatosis.<\/jats:p>","DOI":"10.1111\/exd.14559","type":"journal-article","created":{"date-parts":[[2022,3,5]],"date-time":"2022-03-05T09:45:11Z","timestamp":1646473511000},"page":"943-948","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Whole\u2010transcriptome sequencing identifies postzygotic <i>ATP2A2<\/i> mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late\u2010onset segmental Darier disease"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8492-2410","authenticated-orcid":false,"given":"Fatemeh","family":"Mohaghegh","sequence":"first","affiliation":[{"name":"Department of Dermatology Skin Diseases and Leishmaniasis Research Center School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4253-6503","authenticated-orcid":false,"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department Dermatology and Cutaneous Biology Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6829-8550","authenticated-orcid":false,"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department of Dermatology Skin Diseases and Leishmaniasis Research Center School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2047-0539","authenticated-orcid":false,"given":"Narjes","family":"Tavakoli","sequence":"additional","affiliation":[{"name":"Nobel Laboratory  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4298-9147","authenticated-orcid":false,"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Department Dermatology and Cutaneous Biology Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department Dermatology and Cutaneous Biology Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,24]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102133.2002.04559.x"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/6784"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.50.33295"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2010.12.006"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2005.06383.x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjoms.2004.10.017"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190\u20109622(92)70154\u20108"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000018268"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.1997.tb14920.x"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806\u20104841.20153581"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.5826\/dpc.0403a03"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2007.0124"},{"issue":"4","key":"e_1_2_12_14_1","first-page":"31","article-title":"Monolateral Grover's disease with blaschkoid distribution","volume":"25","author":"Meo N","year":"2017","journal-title":"Acta Dermatovenerol Croat"},{"key":"e_1_2_12_15_1","article-title":"Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency","author":"Youssefian L","journal-title":"Journal of Investigative Dermatology"},{"key":"e_1_2_12_16_1","article-title":"Whole\u2010transcriptome sequencing\u2010based concomitant detection of viral and human genetic determinants of cutaneous lesions","author":"Saeidian AH","journal-title":"JCI Insight"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.02.032"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvab042"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20104632.2006.03049.x"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1621"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20103770"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.6292"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000018370"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000509177"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2000.03736.x"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1159\/000343172"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346\u20108138.2010.00910.x"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.13230"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20103083.2005.01352.x"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2015.04.009"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14559","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/exd.14559","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14559","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T05:50:43Z","timestamp":1692856243000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.14559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,24]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1111\/exd.14559"],"URL":"https:\/\/doi.org\/10.1111\/exd.14559","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,24]]},"assertion":[{"value":"2021-11-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}