{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:51Z","timestamp":1791417651933,"version":"4.3.3"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T00:00:00Z","timestamp":1715558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as <jats:italic>KRT1<\/jats:italic>, <jats:italic>KRT2<\/jats:italic> and <jats:italic>KRT10<\/jats:italic>, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal\u2010recessive EI, superficial EI and epidermal nevus. Case reports highlight the diversity of clinical manifestations, but only limited information exists regarding the quality of life and burden of disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The objective of this study was to assess the clinical spectrum, genotype\u2013phenotype correlations and burden of disease in patients with epidermolytic ichthyosis in Germany.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted an observational study involving 48 patients diagnosed with EI. Evaluations included the severity of skin involvement using the Investigator's Global Assessment (IGA), the modified Ichthyosis Area Severity Index (mIASI) and complications. The burden of disease was evaluated using the Dermatology Life Quality Index (DLQI) or the Children's Dermatology Life Quality Index (cDLQI).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Based on clinical features, mIASI and IGA, EI can be categorized into localized, intermediate and severe forms. Patients with keratin 1 mutations tended to have severe EI, while the three forms were evenly distributed in those with keratin 10 mutations. The study highlights that around half of the patients with EI experienced itch and severe pain. Quality of life was affected, with daily life restrictions of 78% due to care and therapies. Reimbursement for moisturizing ointments by health insurance was insufficient for one\u2010quarter of cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The results emphasize the need for targeted interventions and comprehensive care strategies to enhance the quality of life for affected individuals.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.20096","type":"journal-article","created":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T06:55:17Z","timestamp":1715669717000},"page":"1028-1037","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1384-7844","authenticated-orcid":false,"given":"Leonie","family":"Frommherz","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergy University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Giehl","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephine","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Huebner","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Medical Center \u2013 University of Freiburg, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirstin","family":"Kiekbusch","sequence":"additional","affiliation":[{"name":"German Support Group for Ichthyosis Mittenwalde OT Brusendorf  Mittenwalde Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodora","family":"Sabkova","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Medical Center \u2013 University of Freiburg, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kira","family":"S\u00fc\u00dfmuth","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Helios Klinikum Berlin\u2010Buch  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svenja","family":"Alter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Center \u2013 University of Freiburg, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iliana","family":"Tantcheva\u2010Po\u00f3r","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Faculty of Medicine and University Hospital University of Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagen","family":"Ott","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dermatology, Center for Rare Congenital Skin Diseases Children's Hospital Auf der Bult  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Center \u2013 University of Freiburg, 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 \u2013 University of Freiburg, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,13]]},"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","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.031"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20102299"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2010.09665.x"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.6"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.13324"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20101447"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21207707"},{"key":"e_1_2_10_10_1","first-page":"61","article-title":"Health\u2010related quality of life among patients with ichthyosis","volume":"14","author":"G\u00e5nemo A","year":"2004","journal-title":"Eur J Dermatol"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2011.10701.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/ddg.13968"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2021.4242"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.1995.tb16953.x"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102230.1994.tb01167.x"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2010.01114.x"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.04.037"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.07.019"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17524"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12084.x"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-1"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/ced\/llac069"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2018.03.021"}],"container-title":["Journal of the European Academy of Dermatology and Venereology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdv.20096","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,7]],"date-time":"2025-05-07T17:15:05Z","timestamp":1746638105000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdv.20096"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,13]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/jdv.20096"],"URL":"https:\/\/doi.org\/10.1111\/jdv.20096","archive":["Portico"],"relation":{},"ISSN":["0926-9959","1468-3083"],"issn-type":[{"value":"0926-9959","type":"print"},{"value":"1468-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,13]]},"assertion":[{"value":"2023-10-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}