{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T02:54:30Z","timestamp":1781578470324,"version":"3.54.5"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,1,13]],"date-time":"2022-01-13T00:00:00Z","timestamp":1642032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010571","name":"Bundesministerium f\u00fcr Bildung, Wissenschaft, Forschung und Technologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010571","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FI1767\/3\u20101"],"award-info":[{"award-number":["FI1767\/3\u20101"]}],"id":[{"id":"10.13039\/501100001659","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":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal\u2010recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self\u2010improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkably (within years) after birth. So far, there are sparse data on SICI and quality of life (QoL) in this ARCI subtype. This study aims to further delineate the clinical spectrum of SICI as a rather unique subtype of ARCI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>This prospective study included 78 patients (median age: 15\u2009years) with ARCI who were subdivided in SICI (<jats:italic>n<\/jats:italic>\u2009=\u200918) and non\u2010SICI patients (nSICI, <jats:italic>n<\/jats:italic>\u2009=\u200960) by their ARCI phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Quality of life (QoL) was assessed using the (Children\u2019s) Dermatology Life Quality Index. Statistical analysis was performed with chi\u2010squared and <jats:italic>t\u2010Tests<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The genetically confirmed SICI patients presented causative mutations in the following genes: <jats:italic>ALOXE3<\/jats:italic> (8\/16; 50.0%), <jats:italic>ALOX12B<\/jats:italic> (6\/16; 37.5%), <jats:italic>PNPLA1<\/jats:italic> (1\/16; 6.3%) and <jats:italic>CYP4F22<\/jats:italic> (1\/16; 6.3%). Hypo\u2010\/anhidrosis and insufficient vitamin D levels (&lt;30\u2009ng\/mL) were often seen in SICI patients. Brachydactyly (a shortening of the 4th and 5th fingers) was statistically more frequent in SICI (<jats:italic>P<\/jats:italic>\u2009=\u20090.023) than in nSICI patients. A kink of the ear\u2019s helix was seen in half of the SICI patients and tends to occur more frequently in patients with <jats:italic>ALOX12B<\/jats:italic> mutations (<jats:italic>P<\/jats:italic>\u2009=\u20090.005). QoL was less impaired in patients under the age of 16, regardless of ARCI type.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>SICI is an underestimated, milder clinical variant of ARCI including distinct features such as brachydactyly and kinking of the ears. Clinical experts should be aware of these features when seeing neonates with a collodion membrane. SICI patients should be regularly checked for clinical parameters such as hypo\u2010\/anhidrosis or vitamin D levels and monitored for changes in quality of life.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.17873","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T12:18:48Z","timestamp":1639570728000},"page":"582-591","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Quality of life and clinical characteristics of self\u2010improving congenital ichthyosis within the disease spectrum of autosomal\u2010recessive congenital ichthyosis"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7129-5318","authenticated-orcid":false,"given":"L.","family":"Hake","sequence":"first","affiliation":[{"name":"Department of Dermatology Elbe Klinikum Buxtehude Buxtehude Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7284-9949","authenticated-orcid":false,"given":"K.","family":"S\u00fc\u00dfmuth","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Komlosi","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Faculty of Medicine Medical Center \u2013 University of Freiburg University of Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kopp","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Faculty of Medicine Medical Center \u2013 University of Freiburg University of Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8456-4246","authenticated-orcid":false,"given":"C.","family":"Drerup","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Metze","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Traupe","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Hausser","sequence":"additional","affiliation":[{"name":"Institute of Pathology Heidelberg University Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.M.","family":"Eckl","sequence":"additional","affiliation":[{"name":"Department of Biological and Geographical Sciences University of Huddersfield Huddersfield UK"},{"name":"Division of Human Genetics Medical University of Innsbruck Innsbruck Austria"},{"name":"Department of Biology Edge Hill University Ormskirk UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.C.","family":"Hennies","sequence":"additional","affiliation":[{"name":"Department of Biological and Geographical Sciences University of Huddersfield Huddersfield UK"},{"name":"Cologne Center for Genomics University Hospital Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Faculty of Medicine Medical Center \u2013 University of Freiburg University of Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Oji","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/ddg.12229_suppl","article-title":"Die nichtsyndromalen Ichthyosen \u2010 aktueller Stand","volume":"12","author":"Traupe H","year":"2014","journal-title":"J Dtsch Dermatol Ges"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0937"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.346"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12032.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18211"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08832.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12010080"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-8-11"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/24.17.3439"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2418"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.539"},{"key":"e_1_2_7_19_1","doi-asserted-by":"crossref","unstructured":"OjiV PreilM KleinowBet\u00a0al.DDG \/ AWMF S1 Leitlinie * Leitlinie zur Diagnostik und Therapie der Ichthyosen (Aktualisierung) S1 Leitlinie Ichthyosen (Aktualisierung).2016.","DOI":"10.1111\/ddg.13340_g"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.08.047"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2020.01.033"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/ddg.13968_g"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.57"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.409"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.1.107"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15308"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15570"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.11.012"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3227"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12740"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1159\/000250259"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10701.x"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.15613"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01432.x"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.4081\/dr.2010.e7"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1710"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0309-2402.2003.02820.x"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2004.10.447"}],"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.17873","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jdv.17873","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdv.17873","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T11:42:00Z","timestamp":1693136520000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdv.17873"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,13]]},"references-count":37,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1111\/jdv.17873"],"URL":"https:\/\/doi.org\/10.1111\/jdv.17873","archive":["Portico"],"relation":{},"ISSN":["0926-9959","1468-3083"],"issn-type":[{"value":"0926-9959","type":"print"},{"value":"1468-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,13]]},"assertion":[{"value":"2021-04-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}