{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T07:27:03Z","timestamp":1767166023529,"version":"build-2238731810"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T00:00:00Z","timestamp":1564617600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T00:00:00Z","timestamp":1557446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T00:00:00Z","timestamp":1564617600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,8,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Pachyonychia congenita (PC) describes a group of genodermatoses manifesting as thickened nails, palmoplantar keratoderma (PPK) and increased risk of cutaneous infections. PC tarda (PCT) describes late-onset PC, and associated genetic polymorphisms have been identified. There has been discussion that PCT may not be a distinct entity but rather misdiagnosed ectodermal dysplasia (ED) or PPK. Clarification of this is important for appropriate diagnosis, management and patient and genetic counselling. We aimed to conduct a systematic review of all reported cases of PCT in the published literature and collate evidence of genetic polymorphisms and clinical features to compare with known features of PC, ED and PPK. PubMed (1946 to 1 July 2018), Scopus (1955 to 1 July 2018) and Web of Science (1990 to 1 July 2018) databases were searched for case reports of PCT with no search restrictions on date or language. The search strategy included the terms pachyonychia congenita tarda OR pachyonychia congenita AND (late onset OR delayed OR PCT). In total, 13 reports describing 19 individual cases of PCT were identified. Of the three identified genetic polymorphisms, the earliest identified has been shown to be highly probably pathogenic, with the second likely to result in a benign amino acid change, while the third has since been shown to be nonpathogenic,. No epigenetic studies have been performed on any reported cases. Previous authors have suggested that a number of cases of PCT may be misdiagnosed ED or PPK. The findings of our review cannot refute this suggestion, and highlight the need for thorough clinical documentation of suspected cases of PCT and thorough genetic screening of kindred to identify causative genetic polymorphisms. Further high-quality datasets and reporting are needed to give further insight into the nature of PCT as a unique entity.<\/jats:p>","DOI":"10.1111\/ced.13980","type":"journal-article","created":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T05:53:15Z","timestamp":1557467595000},"page":"606-612","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A systematic review of reported cases of pachyonychia congenita tarda"],"prefix":"10.1093","volume":"44","author":[{"given":"A.","family":"Tatian","sequence":"first","affiliation":[{"name":"Department of Dermatology Liverpool Hospital Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Slape","sequence":"additional","affiliation":[{"name":"Department of Dermatology Liverpool Hospital Sydney NSW Australia"},{"name":"University of New South Wales Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Lawless","sequence":"additional","affiliation":[{"name":"Department of Dermatology Liverpool Hospital Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5042-3632","authenticated-orcid":false,"given":"J. W.","family":"Frew","sequence":"additional","affiliation":[{"name":"Department of Dermatology Liverpool Hospital Sydney NSW Australia"},{"name":"University of New South Wales Sydney NSW Australia"},{"name":"Ingham Institute of Applied Medical Research Liverpool, Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,8,1]]},"reference":[{"key":"2023041918364987600_ced13980-bib-0001","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1001\/archderm.1991.01680040109013","article-title":"Pachyonychia congenital tarda. A late-onset form of pachyonychia congenita","volume":"127","author":"Paller","year":"1991","journal-title":"Arch Dermatol"},{"key":"2023041918364987600_ced13980-bib-0002","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1046\/j.1365-2133.2001.04199.x","article-title":"Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16","volume":"144","author":"Connors","year":"2001","journal-title":"Br J Dermatol"},{"key":"2023041918364987600_ced13980-bib-0003","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1111\/1346-8138.12349","article-title":"Delayed onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b","volume":"41","author":"Guo","year":"2014","journal-title":"J Dermatol"},{"key":"2023041918364987600_ced13980-bib-0004","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/j.0022-202X.2004.22408.x","article-title":"A novel mutation in the second half of the keratin 171A domain in a large pedigree with delayed onset pachyonychia congenita type 2","volume":"122","author":"Xiao","year":"2004","journal-title":"J Invest Dermatol"},{"key":"2023041918364987600_ced13980-bib-0005","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1034\/j.1600-0625.2000.009003170.x","article-title":"Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma","volume":"9","author":"Fisher","year":"2000","journal-title":"Exp Dermatol"},{"key":"2023041918364987600_ced13980-bib-0006","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1111\/j.1365-4632.2008.03830.x","article-title":"Pachyonychia congenita tarda: very late onset","volume":"47","author":"Bahhady","year":"2008","journal-title":"Int J Dermatol"},{"key":"2023041918364987600_ced13980-bib-0007","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1016\/S0190-9622(09)80144-8","article-title":"Pachyonychia congenita in the absence of other syndrome abnormalities","volume":"30","author":"Chang","year":"1994","journal-title":"J Am Acad Dermatol"},{"key":"2023041918364987600_ced13980-bib-0008","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1046\/j.1440-0960.2000.00425.x","article-title":"Pachyonychia congenita tarda","volume":"41","author":"Hannaford","year":"2000","journal-title":"Australas J Dermatol"},{"key":"2023041918364987600_ced13980-bib-0009","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S0190-9622(96)90663-5","article-title":"Pachyonychia congenita tarda","volume":"35","author":"Mouaci-Midoun","year":"1996","journal-title":"J Am Acad Dermatol"},{"key":"2023041918364987600_ced13980-bib-0010","doi-asserted-by":"crossref","first-page":"278","DOI":"10.4103\/2229-5178.185463","article-title":"Pachyonychia congenita with late onset (PC tarda)","volume":"7","author":"Sravanthi","year":"2016","journal-title":"Indian Dermatol Online J"},{"key":"2023041918364987600_ced13980-bib-0011","doi-asserted-by":"crossref","first-page":"12","DOI":"10.5070\/D36193D392","article-title":"Pachyonychia congenita tarda affecting only the nails","volume":"14","author":"Vaccaro","year":"2008","journal-title":"Dermatol Online J"},{"key":"2023041918364987600_ced13980-bib-0012","doi-asserted-by":"crossref","first-page":"e312","DOI":"10.1111\/1346-8138.14001","article-title":"Keratin 6b variant pGly499Ser reported in delayed onset pachyonychia congenita is a non-pathogenic polymorphism","volume":"44","author":"Smith","year":"2017","journal-title":"J Dermatol"},{"key":"2023041918364987600_ced13980-bib-0013","doi-asserted-by":"crossref","first-page":"567","DOI":"10.4103\/0019-5154.190110","article-title":"Pachyonychia congenita: new classification and diagnosis","volume":"61","author":"Agarwala","year":"2016","journal-title":"Indian J Dermatol"},{"key":"2023041918364987600_ced13980-bib-0014","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1365-2230.1981.tb02281.x","article-title":"Pachyonychia congenita with candidiasis","volume":"6","author":"Mawhinney","year":"1981","journal-title":"Clin Exp Dermatol"},{"key":"2023041918364987600_ced13980-bib-0015","doi-asserted-by":"crossref","first-page":"409","DOI":"10.4103\/0976-237X.118374","article-title":"Pachyonychia congenita tarda: a rare case report","volume":"4","author":"Moger","year":"2013","journal-title":"Contemp Clin Dent"},{"key":"2023041918364987600_ced13980-bib-0016","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/jid.2011.20","article-title":"A large mutational study in pachyonychia congenita","volume":"131","author":"Wilson","year":"2011","journal-title":"J Invest Dermatol"},{"key":"2023041918364987600_ced13980-bib-0017","first-page":"43","article-title":"Pachyonychia congenita tarda","volume":"60","author":"Jaiswal","year":"1994","journal-title":"Indian J Dermatol Venereol Leprol"}],"updated-by":[{"DOI":"10.1111\/ced.14864","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2021,9,23]],"date-time":"2021-09-23T00:00:00Z","timestamp":1632355200000}}],"container-title":["Clinical and Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fced.13980","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ced.13980","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ced.13980","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/44\/6\/606\/50034845\/ced0606.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/44\/6\/606\/50034845\/ced0606.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T14:39:32Z","timestamp":1681915172000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ced\/article\/44\/6\/606\/6597463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,1]]},"references-count":17,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2019,8,1]]},"published-print":{"date-parts":[[2019,8,1]]}},"URL":"https:\/\/doi.org\/10.1111\/ced.13980","relation":{},"ISSN":["1365-2230","0307-6938"],"issn-type":[{"value":"1365-2230","type":"electronic"},{"value":"0307-6938","type":"print"}],"subject":[],"published-other":{"date-parts":[[2019,8,1]]},"published":{"date-parts":[[2019,8,1]]},"assertion":[{"value":"2019-03-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}