{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T06:49:34Z","timestamp":1771570174111,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Leading Talents and Innovation Team of Jiangsu Province","award":["CXTDA2017038"],"award-info":[{"award-number":["CXTDA2017038"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in the <jats:italic>COL7A1<\/jats:italic> gene. DEB, nails only (DEB\u2010na), is a rare type of DEB. Patients with DEB\u2010na can be overlooked, and genetic testing is helpful to determine the correct diagnosis. We collected two families with DEB\u2010na. Clinical information was analyzed. Ultrastructural analysis of the skin tissue was performed. Blood samples were obtained. Next\u2010generation sequencing was performed and the results were confirmed by Sanger sequencing. A genetic study revealed two novel heterozygous mutations: <jats:italic>COL7A1<\/jats:italic>:c.6742G&gt;A (p.G2248R) in patient 1 and c.7181C&gt;G (p.P2394R) in patient 2. Precise diagnosis was made for every patient based on clinical findings and genetic studies. We summarized the phenotype and <jats:italic>COL7A1<\/jats:italic> mutations related to DEB\u2010na. We report a new phenotype of DEB\u2010na and two novel mutations in <jats:italic>COL7A1<\/jats:italic>. In addition, we emphasize the importance of careful clinical examination and genetic testing in the diagnosis of DEB\u2010na.<\/jats:p>","DOI":"10.1111\/1346-8138.15372","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T17:55:25Z","timestamp":1589306125000},"page":"782-786","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a <i>COL7A1<\/i> mutation as the underlying cause"],"prefix":"10.1111","volume":"47","author":[{"given":"Rui","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Dermatology School of Medicine Jinling Hospital Nanjing University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Duan","sequence":"additional","affiliation":[{"name":"Dermatology Chinese Academy of Medical Sciences and Peking Union Medical College Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingtao","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Dermatology School of Medicine Jinling Hospital Nanjing University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Reproduction and Genetics Institute of Laboratory Medicine School of Medicine Jinling Hospital Nanjing University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Dermatology School of Medicine Jinling Hospital Nanjing University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyi","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Reproduction and Genetics Institute of Laboratory Medicine School of Medicine Jinling Hospital Nanjing University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7188-6740","authenticated-orcid":false,"given":"Hong","family":"Sang","sequence":"additional","affiliation":[{"name":"Department of Dermatology School of Medicine Jinling Hospital Nanjing University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.01.016"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2016.10.023"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2147\/CCID.S54681"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1185\/03007995.2016.1147026"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12852"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14023"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2851"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.138.2.269"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14287"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00394.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2001.0801.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00713.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000322619"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.011"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.15372","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15372","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.15372","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15372","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T13:04:31Z","timestamp":1693746271000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.15372"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,12]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1111\/1346-8138.15372"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.15372","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,12]]},"assertion":[{"value":"2019-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}