{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:07Z","timestamp":1791894187009,"version":"4.3.4"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T00:00:00Z","timestamp":1381449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Deutsche Derma Gesell"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Ichthyoses are genetically determined Mendelian disorders of cornification (MEDOC) that are characterized by universal scaling. Today we distinguish between non\u2010syndromic and syndromic forms. Ichthyosis vulgaris is the most frequent type (prevalence 1:100) and is caused by autosomal semi\u2010dominant filaggrin mutations. It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X\u2010linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000. It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (\u223c20%) or social communication deficits, such as attention deficit hyperactivity syndrome (40%) or autism (25%). Autosomal recessive congenital ichthyosis (ARCI) is genetically very heterogeneous and 8 different genes have been identified so far. The most frequent cause of ARCI is a transglutaminase 1 deficiency (prevalence 1:200, 000). Mutations in keratin genes are the cause of the keratinopathic ichthyoses, such as epidermolytic ichthyosis. They manifest at birth and often feature episodes of blistering. Most of these types are inherited as autosomal dominant traits, but autosomal recessive forms have also been described on occasion.<\/jats:p>","DOI":"10.1111\/ddg.12229","type":"journal-article","created":{"date-parts":[[2013,10,14]],"date-time":"2013-10-14T11:43:22Z","timestamp":1381751002000},"page":"109-121","source":"Crossref","is-referenced-by-count":38,"title":["Nonsyndromic types of ichthyoses \u2013 an update"],"prefix":"10.1111","volume":"12","author":[{"given":"Heiko","family":"Traupe","sequence":"first","affiliation":[{"name":"Department of Dermatology University of M\u00fcnster  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University Hospital of Freiburg, Freiburg im Breisgau  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinzenz","family":"Oji","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of M\u00fcnster  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,11]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_12_3_1","article-title":"Ichthyoses: Clinical, biochemical, pathogenic and diagnostic assessment","author":"Elias PM","year":"2010","journal-title":"Karger, Basel"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0213563"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09339.x"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.12079"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08999.x"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057729"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.57"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.07.033"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.346"}],"container-title":["JDDG: Journal der Deutschen Dermatologischen Gesellschaft"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fddg.12229","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ddg.12229","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T18:15:06Z","timestamp":1696270506000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ddg.12229"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,11]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1111\/ddg.12229"],"URL":"https:\/\/doi.org\/10.1111\/ddg.12229","archive":["Portico"],"relation":{},"ISSN":["1610-0379","1610-0387"],"issn-type":[{"value":"1610-0379","type":"print"},{"value":"1610-0387","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,11]]}}}