{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T15:52:08Z","timestamp":1792252328627,"version":"4.4.0"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with\n                      <jats:italic>CARD14<\/jats:italic>\n                      mutations and one case with a\n                      <jats:italic>GJA1<\/jats:italic>\n                      mutation have been previously reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We recruited patients diagnosed with ILVEN based on clinical and histopathological criteria. Exome sequencing of affected skin with or without blood\/saliva was performed and germline and somatic pathogenic variants were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Five patients were enrolled. All had skin lesions from birth or early childhood. Two patients developed psoriasis vulgaris after the diagnosis of ILVEN. The first had a germline heterozygous\n                      <jats:italic>CARD14<\/jats:italic>\n                      mutation and a post\u2010zygotic hotspot mutation in\n                      <jats:italic>KRT10<\/jats:italic>\n                      . The histopathologic evaluation did not show epidermolytic hyperkeratosis. The second had a post\u2010zygotic hotspot mutation in\n                      <jats:italic>HRAS<\/jats:italic>\n                      . Her ILVEN became itchy once psoriasis developed. One patient was re\u2010diagnosed with linear porokeratosis based on a germline mutation in\n                      <jats:italic>PMVK<\/jats:italic>\n                      and a post\u2010zygotic second\u2010hit mutation. Two patients were re\u2010diagnosed with congenital hemidysplasia with ichthyosiform nevus and limb defect nevus based on germline\n                      <jats:italic>NSDHL<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>ILVEN is a clinical descriptor for a heterogenous group of mosaic inflammatory disorders. Genetic analysis has the potential to more precisely categorize ILVEN and permits pathogenesis\u2010directed therapies in some cases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pde.15094","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T20:35:06Z","timestamp":1658262906000},"page":"903-907","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Inflammatory linear verrucous epidermal nevus (\n                    <scp>ILVEN<\/scp>\n                    ) encompasses a spectrum of inflammatory mosaic disorders"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5149-5777","authenticated-orcid":false,"given":"Lihi","family":"Atzmony","sequence":"first","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Division of Dermatology Rabin Medical Center  Petach Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8647-5300","authenticated-orcid":false,"given":"Nelson","family":"Ugwu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hamilton","sequence":"additional","affiliation":[{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6187-6549","authenticated-orcid":false,"given":"Amy S.","family":"Paller","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6846-8828","authenticated-orcid":false,"given":"Loren","family":"Zech","sequence":"additional","affiliation":[{"name":"Department of Dermatology The University of New Mexico  NE Albuquerque New Mexico USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8557-5986","authenticated-orcid":false,"given":"Richard J.","family":"Antaya","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Department of Pediatrics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith A.","family":"Choate","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Department of Pathology Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1985.tb00479.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1971.04000220043008"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.4103\/2319\u20107250.206088"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.11.016"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2021.02.765"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/201178"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2514"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102308\u20107"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_9_13_1","unstructured":"VCV000180848.6 \u2013 ClinVar: NCBI. 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