{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T18:48:00Z","timestamp":1771613280459,"version":"3.50.1"},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T00:00:00Z","timestamp":1580083200000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Deutsche Derma Gesell"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:sec><jats:title>Hintergrund<\/jats:title><jats:p>Ichthyosen sind eine heterogene Gruppe von Krankheiten, deren klinische Klassifizierung schwierig ist. Hier wird die Ichthyosekohorte eines Expertisezentrums f\u00fcr Genodermatosen im Detail beschrieben.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patienten und Methodik<\/jats:title><jats:p>Eingeschlossen wurden Patienten mit klinisch oder genetisch best\u00e4tigter Ichthyose, die zwischen 2004 und 2017 untersucht und in einer Datenbank aufgenommen wurden. Krankheitsbeginn, Ph\u00e4notyp, Histologie, Komorbidit\u00e4ten und Familienanamnese wurden detailliert beschrieben. Bei den genetisch getesteten Patienten wurden Jahr und Methode der genetischen Testung protokolliert und die Pr\u00e4valenz der unterschiedlichen Autosomal\u2010rezessive\u2010kongenitale Ichthyose (ARCI)\u2010Gene und \u2010Ph\u00e4notypen, die Pr\u00e4valenz der syndromalen Ichthyosen und die Genotyp\u2010Ph\u00e4notyp\u2010Korrelationen analysiert.<\/jats:p><\/jats:sec><jats:sec><jats:title>Ergebnisse und Methodik<\/jats:title><jats:p>Von den insgesamt 198 eingeschlossenen Patienten wurden 151 genetisch getestet. 81 Patienten hatten eine Ichthyosis vulgaris (IV), 43 eine X\u2010chromosomale Ichthyose (XLI), 38 eine ARCI, 9 eine keratinopathische Ichthyose (KPI) und ein Patient eine Exfoliative Ichthyose. 26 Patienten litten an einer syndromalen Ichthyose. Im Vergleich zu den syndromalen Ichthyosen wurde bei den h\u00e4ufigen Ichthyosen (IV, XLI) und KPI eine gute Ph\u00e4notyp\u2010Genotyp\u2010Korrelation beobachtet. In 91\u00a0% der ARCI\u2010Patienten konnte die exakte Diagnose durch genetische Testung gestellt werden. Lediglich bei 33\u00a0% der Patienten mit syndromaler Ichthyose bestand vor der genetischen Testung ein Verdacht auf die tats\u00e4chliche Diagnose. In 86\u00a0% der F\u00e4lle wurde eine kausale Mutation nachgewiesen.<\/jats:p><\/jats:sec><jats:sec><jats:title>Schlussfolgerungen<\/jats:title><jats:p>Die Arbeit beschreibt das Spektrum der Ichthyosen an einem Expertisezentrum und zeigt, dass f\u00fcr diese Gruppe die genetische Testung von Genodermatosen ein diagnostischer Standard werden sollte.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ddg.13968_g","type":"journal-article","created":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T10:12:36Z","timestamp":1580119956000},"page":"17-26","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Spektrum der Ichthyosen in einer \u00f6sterreichischen Ichthyosekohorte von 2004\u20132007"],"prefix":"10.1111","volume":"18","author":[{"given":"Magdalena","family":"Seidl\u2010Philipp","sequence":"first","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Dermatologie Venerologie und Allergologie Medizinische Universit\u00e4t 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f\u00fcr Dermatologie Venerologie und Allergologie Medizinische Universit\u00e4t Innsbruck  Innsbruck \u00d6sterreich"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna S.","family":"Schossig","sequence":"additional","affiliation":[{"name":"Division f\u00fcr Humangenetik Medizinische Universit\u00e4t Innsbruck  Innsbruck \u00d6sterreich"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[{"name":"Division f\u00fcr Humangenetik Medizinische Universit\u00e4t Innsbruck  Innsbruck \u00d6sterreich"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Schmuth","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Dermatologie Venerologie und Allergologie Medizinische Universit\u00e4t Innsbruck  Innsbruck 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