{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:52Z","timestamp":1791536272455,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,12,29]],"date-time":"2011-12-29T00:00:00Z","timestamp":1325116800000},"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":["Aust J Dermatology"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Ectodermal dysplasia\u2010skin fragility syndrome (ED\u2010SFS) is a rare autosomal recessive genodermatosis resulting from mutations in the <jats:italic>PKP1<\/jats:italic> gene, encoding the desmosomal plaque protein plakophilin\u20101 (PKP1). Mutations in PKP1 may manifest with skin fragility and erosions, patches of scale crust on the trunk and limbs, peri\u2010oral cracking and inflammation, hypotrichosis, palmoplantar keratoderma with painful fissuring and other somewhat variable ectodermal anomalies. Ten cases of the syndrome have been reported. We report a further case of this desmosomal genodermatosis. A 14\u2010month old child, born to consanguineous parents, presented with a history of neonatal bullae and subsequent development of dystrophic nails, sparse eyelashes and eyebrows, woolly scalp hair, abnormal dental development and a desquamating erythematous rash at sites of trauma. A clinical diagnosis of ED\u2010SFS was supported by skin biopsy findings of suprabasal intraepidermal clefting and a loss of immunoreactivity for PKP1. Sequencing of genomic DNA revealed a homozygous 5 base pair deletion in exon 5 of the <jats:italic>PKP1<\/jats:italic> gene, designated c.897del5 (CAACC). This new mutation creates a frameshift, leading to a downstream premature termination codon, p.Pro299fsX61. This case highlights the clinicopathological consequences of inherited mutations in the <jats:italic>PKP1<\/jats:italic> gene and illustrates the key role of desmosomes in skin biology.<\/jats:p>","DOI":"10.1111\/j.1440-0960.2011.00846.x","type":"journal-article","created":{"date-parts":[[2011,12,29]],"date-time":"2011-12-29T11:19:31Z","timestamp":1325157571000},"page":"61-65","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Ectodermal dysplasia\u2010skin fragility syndrome due to a new homozygous internal deletion mutation in the <i>PKP1<\/i> gene"],"prefix":"10.1111","volume":"53","author":[{"given":"Aaron E","family":"Boyce","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanasit","family":"Techanukul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9d\u00e9e F","family":"Murrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung Wo","family":"Chow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"McGregor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lachlan J","family":"Warren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,29]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-240"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.004"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.02667.x"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00082.x"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2002.110202.x"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.22335.x"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2003.22302.x"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1080\/00015550510037684"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.10.002"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08900.x"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.12.002"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.014"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(98)70317-2"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.18.2761"},{"key":"e_1_2_6_16_2","article-title":"Desmosomal genodermatoses","author":"Petrof G","year":"2011","journal-title":"Br. 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Dermatol."}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1440-0960.2011.00846.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1440-0960.2011.00846.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T19:01:21Z","timestamp":1698778881000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1440-0960.2011.00846.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,29]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1111\/j.1440-0960.2011.00846.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1440-0960.2011.00846.x","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"value":"0004-8380","type":"print"},{"value":"1440-0960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,29]]},"assertion":[{"value":"2011-12-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}