{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:09:17Z","timestamp":1792166957735,"version":"4.4.0"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,4,4]],"date-time":"2016-04-04T00:00:00Z","timestamp":1459728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pachyonychia congenita (<jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content>) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation\u2010specific keratin genes<jats:italic>, <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>6A<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>6B<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>6C<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>16<\/jats:italic>, or <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>17<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Living with Pachyonychia Congenita can be isolating. The aim of this paper is to document a single patient's experience within a national context.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We report the case of a 2 year old female with an atypical presentation of <jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content> due to a mutation in <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>6A<\/jats:italic> with severely hypertrophic follicular keratoses, skin fragility, relative sparing of nail hypertrophy on one hand and failure to thrive in early infancy. In collaboration with the International Pachyonychia Congenita Research Registry (<jats:styled-content style=\"fixed-case\">IPCRR<\/jats:styled-content>), a database search was performed using Australian residency and <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>6A<\/jats:italic> mutation as inclusion criteria. The <jats:styled-content style=\"fixed-case\">IPCRR<\/jats:styled-content> database was also searched for a matching <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>6A<\/jats:italic> mutation. Six Australian patients were identified in addition to one patient with an identical mutation residing in the United States. The detailed standardized patient questionnaire data was manually collated and analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fingernail hypertrophy and oral leukokeratosis were the most common features. There was no recording of asymmetric distribution in any other Australian patient. Trouble nursing as an infant and follicular hyperkeratosis also occurred in the American patient, however they did not have asymmetric distribution and the oral leukokeratosis appeared later in life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case has unique features. Sharing information can assist patients navigating life with this condition.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.12841","type":"journal-article","created":{"date-parts":[[2016,4,4]],"date-time":"2016-04-04T09:31:54Z","timestamp":1459762314000},"page":"337-342","source":"Crossref","is-referenced-by-count":21,"title":["Pachyonychia Congenita: A Spectrum of <scp>KRT<\/scp>6a Mutations in Australian Patients"],"prefix":"10.1111","volume":"33","author":[{"given":"Charlotte E.","family":"Forrest","sequence":"first","affiliation":[{"name":"Royal Adelaide Hospital Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3170-8349","authenticated-orcid":false,"given":"Genevieve","family":"Casey","sequence":"additional","affiliation":[{"name":"Flinders Medical Centre Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dylan A.","family":"Mordaunt","sequence":"additional","affiliation":[{"name":"South Australian Clinical Genetics Service North Adelaide South Australia Australia"},{"name":"Department of Paediatrics University of Adelaide North Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth M.","family":"Thompson","sequence":"additional","affiliation":[{"name":"South Australian Clinical Genetics Service North Adelaide South Australia Australia"},{"name":"Department of Paediatrics University of Adelaide North Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne","family":"Gordon","sequence":"additional","affiliation":[{"name":"Flinders Medical Centre Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.12.009"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13341"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12958"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.07.003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.1999.tb00356.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01565.x"},{"key":"e_1_2_6_9_1","unstructured":"International PC Research Registry (IPCRR) Chart of PC Mutations.https:\/\/www.pachyonychia1.org\/GRAPHS?IPCRRMutationsChart.pdf(accessed on January 13 2015)."}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12841","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12841","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T00:19:51Z","timestamp":1695514791000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12841"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,4]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1111\/pde.12841"],"URL":"https:\/\/doi.org\/10.1111\/pde.12841","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,4]]}}}