{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T10:16:07Z","timestamp":1787393767494,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T00:00:00Z","timestamp":1582070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 AR071491"],"award-info":[{"award-number":["R01 AR071491"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Epidermolytic acanthoma (EA) is a rare acquired lesion demonstrating a characteristic histopathological pattern of epidermal degeneration referred to as epidermolytic hyperkeratosis (EHK). On histopathological analysis, EA appears nearly identical to inherited EHK\u2010associated dermatoses such as epidermolytic ichthyosis and ichthyosis bullosa of Siemens. While it has been speculated that EA is caused by mutations in\n                      <jats:italic>KRT10<\/jats:italic>\n                      ,\n                      <jats:italic>KRT1<\/jats:italic>\n                      , or\n                      <jats:italic>KRT2<\/jats:italic>\n                      found in these inherited dermatoses, none have yet been identified. Herein, we aim to identify the contributions of keratin mutations to EA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Using genomic DNA extracted from paraffin\u2010embedded samples from departmental archives, we evaluated a discovery cohort using whole\u2010exome sequencing (WES) and assessed remaining samples using Sanger sequencing screening and restriction fragment length polymorphism (RFLP) analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      DNA from 16\/20 cases in our sample was of sufficient quality for polymerase chain reaction amplification. WES of genomic DNA from lesional tissue revealed\n                      <jats:italic>KRT10<\/jats:italic>\n                      c.466C\u2009&gt;\u2009T, p.Arg156Cys mutations in 2\/3 samples submitted for examination. RFLP analysis of these samples as well as eight additional samples confirmed the mutations identified via WES and identified four additional cases with Arg156 mutations. In sum, 6\/11 screened cases showed hotspot mutation in\n                      <jats:italic>KRT10<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Hotspot mutations in the Arg156 position of\n                      <jats:italic>KRT10<\/jats:italic>\n                      , known to cause epidermolytic ichthyosis, also underlie EA.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cup.13664","type":"journal-article","created":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T10:34:18Z","timestamp":1581417258000},"page":"524-529","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Mutations in\n                    <scp>\n                      <i>KRT10<\/i>\n                    <\/scp>\n                    in epidermolytic acanthoma"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4382-7828","authenticated-orcid":false,"given":"Shayan","family":"Cheraghlou","sequence":"first","affiliation":[{"name":"Department of Dermatology Yale School of Medicine  New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihi","family":"Atzmony","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale School of Medicine  New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5444-0349","authenticated-orcid":false,"given":"Simon F.","family":"Roy","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Montr\u00e9al  Montr\u00e9al Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"McNiff","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale School of Medicine  New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith A.","family":"Choate","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale School of Medicine  New Haven Connecticut"},{"name":"Department of Genetics Yale School of Medicine  New Haven Connecticut"},{"name":"Department of Pathology Yale School of Medicine  New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.031"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12016"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-199302000-00013"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2010.03736.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.13422"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PGP.0000000000000570"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.13818"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.12165"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.12.2147"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.257.5073.1128"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12394414"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-199706000-00006"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000000359"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90314-3"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(68)90375-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/274775a0"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278187"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117132"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10096.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2019.0016"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-121415-121955"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2012.11.006"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-015-1224-y"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cels.2015.08.015"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.12551"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/6784"}],"container-title":["Journal 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