{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T19:12:12Z","timestamp":1782328332799,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T00:00:00Z","timestamp":1668643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100021201","name":"European Academy of Dermatology and Venereology","doi-asserted-by":"publisher","award":["PPRC\u20102018\u201065"],"award-info":[{"award-number":["PPRC\u20102018\u201065"]}],"id":[{"id":"10.13039\/501100021201","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genetic testing was performed by targeted next generation sequencing and whole\u2010exome sequencing. For identity\u2010by\u2010descent analysis, the parents were genotyped and data analysis was performed with the Chromosome Analysis Suite Software. RT\u2010PCR with RNA extracted from skin samples was used to analyse the effect of variants on splicing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic testing identified a few heterozygous variants, but only the variant in <jats:italic>KRT2<\/jats:italic> c.1912\u2009T\u2009&gt;\u2009C, p.Phe638Leu segregated with the disease and remained the strongest candidate. Pairwise identity\u2010by\u2010descent analysis revealed no indication of family relationship. Phenylalanine 638 is the second last amino acid upstream of the termination codon in the tail of K2, and substitution to leucine is predicted as probably damaging. Assessment of the variant is difficult, in part due to the lack of crystal structures of this region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Altogether, we show that a type of autosomal dominant acral ichthyosis is most probably caused by an amino acid substitution in the C\u2010terminus of keratin 2.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.18719","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T15:03:59Z","timestamp":1667574239000},"page":"817-822","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Acral lamellar ichthyosis with amino acid substitution in the C\u2010terminus of keratin 2"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1384-7844","authenticated-orcid":false,"given":"Leonie","family":"Frommherz","sequence":"first","affiliation":[{"name":"Department of Dermatology, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"},{"name":"Department of Dermatology and Allergy Ludwig\u2010Maximilians\u2010Universit\u00e4t M\u00fcnchen (LMU) Munich, University Hospital  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6076-9992","authenticated-orcid":false,"given":"Katalin","family":"Komlosi","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Hewel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center of the Johannes Gutenberg University Mainz  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Kopp","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malin","family":"Dewenter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center of the Johannes Gutenberg University Mainz  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5595-9388","authenticated-orcid":false,"given":"Andreas","family":"Zimmer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Bartsch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center of the Johannes Gutenberg University Mainz  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Linke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center of the Johannes Gutenberg University Mainz  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Technau\u2010Hafsi","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Gerber","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center of the Johannes Gutenberg University Mainz  Mainz Germany"},{"name":"Computational Systems Genomics Group Johannes Gutenberg University Mainz  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-507X","authenticated-orcid":false,"given":"Cristina","family":"Has","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_10_3_1","first-page":"433","article-title":"Bathing\u2010suit ichthyosis. 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