{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T03:12:32Z","timestamp":1772766752013,"version":"3.50.1"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T00:00:00Z","timestamp":1684713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Health and Labor Sciences Research Grant for Research on Intractable Diseases","award":["20FC1052"],"award-info":[{"award-number":["20FC1052"]}]},{"DOI":"10.13039\/100009647","name":"Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009647","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP20ek0109488"],"award-info":[{"award-number":["JP20ek0109488"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"JSPS KAKENHI","award":["21H02941"],"award-info":[{"award-number":["21H02941"]}]},{"name":"JST FOREST Program","award":["JPMJFR210R"],"award-info":[{"award-number":["JPMJFR210R"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,7]]},"abstract":"<jats:p>Recently, Gong et al. reported two substitutions, p.(Gly50Glu) and p.(Gly50Arg), located at the last amino acid of the estimated signal peptide in kallikrein11 (KLK11) in three independent ichthyosiform erythroderma or erythrokeratoderma pedigrees (Gong et al., Br J Dermatol, 2023). Here, we present a further case of autosomal dominant congenital ichthyosiform erythroderma caused by the p.(Gly50Glu) substitution in KLK11; the patient had sharply demarcated pigmented hyperkeratotic lesions. Thus, p.(Gly50Glu) in KLK11 might represent a recurrent variant underlying this recently reported autosomal dominant disorder of cornification, and the large hyperkeratotic pigmented plaques seen in all patients may represent a pathognomonic part of the phenotype.<\/jats:p>","DOI":"10.1093\/bjd\/ljad082","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T13:30:25Z","timestamp":1684762225000},"page":"134-136","source":"Crossref","is-referenced-by-count":5,"title":["<i>KLK11<\/i> ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification"],"prefix":"10.1093","volume":"189","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5958-2875","authenticated-orcid":false,"given":"Takuya","family":"Takeichi","sequence":"first","affiliation":[{"name":"Department of Dermatology, Nagoya University Graduate School of Medicine , Nagoya 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