{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:31:24Z","timestamp":1777937484707,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2018,3,4]],"date-time":"2018-03-04T00:00:00Z","timestamp":1520121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. The broad phenotypic variability seen in EBP suggests that further genotypic and environmental factors may influence presentation. Genetic and histopathological diagnosis is essential, given the considerable overlap with clinically similar presentations such as hypertrophic lichen planus.<\/jats:p>","DOI":"10.1177\/1093526618761497","type":"journal-article","created":{"date-parts":[[2018,3,5]],"date-time":"2018-03-05T01:32:06Z","timestamp":1520213526000},"page":"580-584","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Coinheritance of 2 New Potentially Damaging Heterozygous\n                    <i>COL7A1<\/i>\n                    Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa"],"prefix":"10.1177","volume":"21","author":[{"given":"Gordon I","family":"Hale","sequence":"first","affiliation":[{"name":"Department of Dermatology, Sheffield Children\u2019s Hospital NHS Foundation Trust, Western Bank, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5534-444X","authenticated-orcid":false,"given":"Marta C","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Sheffield Children\u2019s Hospital NHS Foundation Trust, Western Bank, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver W","family":"Quarrell","sequence":"additional","affiliation":[{"name":"Department of Genetics, Sheffield Children\u2019s Hospital NHS Foundation Trust, Western Bank, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A","family":"McGrath","sequence":"additional","affiliation":[{"name":"St. John\u2019s Institute of Dermatology, Kings College London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew G","family":"Messenger","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Sheffield Children\u2019s Hospital NHS Foundation Trust, Western Bank, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,3,4]]},"reference":[{"key":"bibr1-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1994.tb13109.x"},{"key":"bibr2-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2012.01757.x"},{"key":"bibr3-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045302"},{"key":"bibr4-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1177\/1534734615572469"},{"key":"bibr5-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2012.01786.x"},{"key":"bibr6-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13385"},{"issue":"4","key":"bibr7-1093526618761497","doi-asserted-by":"crossref","first-page":"21","DOI":"10.5826\/dpc.0404a03","volume":"4","author":"Cohen PR","year":"2014","journal-title":"Dermatol Pract Concept"},{"key":"bibr8-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2013.155"},{"key":"bibr9-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2010.00953.x"},{"key":"bibr10-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.7.794"},{"issue":"2","key":"bibr11-1093526618761497","first-page":"308","volume":"137","author":"Yamasaki H","year":"1997","journal-title":"Br J Dermatol"},{"key":"bibr12-1093526618761497","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06492.x"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526618761497","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1093526618761497","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526618761497","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:04:42Z","timestamp":1777694682000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1093526618761497"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,4]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1177\/1093526618761497"],"URL":"https:\/\/doi.org\/10.1177\/1093526618761497","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,4]]}}}