{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T12:29:26Z","timestamp":1744374566207,"version":"3.37.3"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T00:00:00Z","timestamp":1544745600000},"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":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 21\u2010year\u2010old man with recurrent bullous eruptions and severe itching on the lower legs and feet since 5 years of age. Dry, dirty brown, tile\u2010like scales covered his lower legs with dystrophic toenails. Nodular prurigo\u2010like lesions, scarring papules and milia remitted after the bullous eruptions. His father and another two family members had similar but mild presentations with recurrent bullae on the lower legs. Whole exome sequencing detected the heterozygous variants of <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> c.6698G&gt;A and <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> c.7249C&gt;T in this pedigree. <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> c.6698G&gt;A was reported in bullous dermolysis of the newborn and <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> c.7249C&gt;T was reported in ichthyosis vulgaris. Thus, the diagnosis of dystrophic epidermolysis bullosa pruriginosa associated with ichthyosis vulgaris was made.<\/jats:p>","DOI":"10.1111\/1346-8138.14731","type":"journal-article","created":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T10:10:33Z","timestamp":1544782233000},"page":"158-160","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Whole exome sequencing identified two point mutations of <i>COL7A1<\/i> and <i>FLG<\/i> in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8609-1374","authenticated-orcid":false,"given":"Lin","family":"Gong","sequence":"first","affiliation":[{"name":"Department of Dermatology No. 1 Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng\u2010Cheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Rehabilitation Center Shengjing Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan\u2010Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology No. 1 Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue\u2010Gang","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Dermatology No. 1 Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13612"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0605"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13392"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40257-015-0119-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08695.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2011.04435.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-012-1155-5"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13473"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14731","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.14731","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14731","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T22:53:34Z","timestamp":1694732014000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.14731"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,14]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1111\/1346-8138.14731"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.14731","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2018,12,14]]},"assertion":[{"value":"2018-06-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}