{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:33:08Z","timestamp":1785688388861,"version":"3.56.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T00:00:00Z","timestamp":1670371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004844","name":"National Cheng Kung University Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004844","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008903","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008903","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare type of epidermal nevus involving the eccrine acrosyringia. It typically presents as asymptomatic linear keratotic papules and plaques along the lines of Blaschko and predominantly affects the extremities. This disease has recently been linked to somatic mutations within the <jats:italic>GJB2<\/jats:italic> locus. Only four <jats:italic>GJB2<\/jats:italic> mutations have been previously documented for PEODDN, and the underlying genetic basis remains inconclusive. Herein, we report an 18\u2010year\u2010old female with a hyperkeratotic plaque on the dorsa of the proximal interphalangeal joint of her right ring finger, as well as multiple small hyperkeratotic papules linearly distributed on the lateral sides of her fingers occurring since birth. Histopathological results revealed prominent parakeratotic cornoid lamella\u2010like tiers at the opening of the eccrine secretory ducts. Whole\u2010exome sequencing of the affected skin tissue revealed a heterozygous germline mutation and a postzygotic somatic mutation in <jats:italic>GJB2<\/jats:italic>. In summary, this study presents a case of PEODDN with compound heterozygous mutations in <jats:italic>GJB2<\/jats:italic>, which broadens the genetic spectrum of this disease entity and implies a possible role for second\u2010hit mutations in the pathogenesis of PEODDN.<\/jats:p>","DOI":"10.1111\/1346-8138.16662","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T21:41:05Z","timestamp":1670449265000},"page":"556-560","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A possible role for second\u2010hit postzygotic <i>GJB2<\/i> mutation in porokeratotic eccrine ostial and dermal duct nevus"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5939-2542","authenticated-orcid":false,"given":"Yi\u2010Han","family":"Chang","sequence":"first","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"},{"name":"Education Center, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3973-2896","authenticated-orcid":false,"given":"Hsing\u2010San","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin\u2010Yu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia Yu\u2010Yun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4365-4533","authenticated-orcid":false,"given":"Chao\u2010Kai","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"},{"name":"International Center for Wound Repair and Regeneration (iWRR) National Cheng Kung University  Tainan Taiwan"},{"name":"Institute of Clinical Medicine, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2018.08.001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2013.87a"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.143"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2014.5069"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.07.003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/ds.ds_34_18"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.14775"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.335"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.051242"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2018.09.042"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37439"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.04.021"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01425.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.312"}],"container-title":["The 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