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Die meisten Genodermatosen werden autosomal oder X\u2011chromosomal vererbt, auch Mosaikformen werden beobachtet. Genodermatosen umfassen verschiedene Ph\u00e4notypen, die von einer begrenzten kutanen Erkrankung bis hin zu einer schweren kutanen und extrakutanen Beteiligung reichen. Sie k\u00f6nnen auch Zeichen multisystemischer St\u00f6rungen sein. Trotz der j\u00fcngsten Fortschritte in der Gentechnologie und den bildgebenden Verfahren der Haut stellt die Dermatoskopie f\u00fcr das Screening, die Diagnostik und die therapeutische Nachsorge eine n\u00fctzliche Untersuchungsmethode dar. Bei der ektopischen Mineralisierungsst\u00f6rung Pseudoxanthoma elasticum und der lysosomalen Speicherkrankheit Morbus Fabry k\u00f6nnen die Symptome auf der Haut auf Beteiligungen innerer Organe hinweisen. Bei Keratinisierungskrankheiten wie Ichthyosen und akantholytischen Dyskeratosen wie Morbus Darier und Morbus Hailey-Hailey kann die Dermatoskopie helfen, die Wirksamkeit der Therapie zu zeigen, indem sie Hintergrunderythem, Hyperkeratose und den interkeratinozyt\u00e4ren Raum sichtbar macht. Die Dermatoskopie ist eine nichtinvasive In-vivo-Untersuchung, die in der allgemeinen Dermatologie zunehmend an Bedeutung gewinnt und ein n\u00fctzliches, leicht zug\u00e4ngliches Instrument zur Erkennung charakteristischer Merkmale von Genodermatosen sein kann.<\/jats:p>","DOI":"10.1007\/s00105-023-05124-7","type":"journal-article","created":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T17:02:52Z","timestamp":1680022972000},"page":"256-261","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Dermatoskopie von Genodermatosen","Dermoscopy of genodermatoses"],"prefix":"10.1007","volume":"74","author":[{"given":"D\u00f3ra","family":"Pl\u00e1z\u00e1r","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Isolde","family":"Joura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Kiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Medvecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"5124_CR1","doi-asserted-by":"publisher","DOI":"10.1201\/9781315201733","volume-title":"Dermoscopy in general dermatology","author":"AEE Lallas","year":"2018","unstructured":"Lallas\u00a0AEE, Ioannides\u00a0D (2018) Dermoscopy in general dermatology"},{"key":"5124_CR2","doi-asserted-by":"publisher","first-page":"1105","DOI":"10.3390\/s21041105","volume":"21","author":"P Anker","year":"2021","unstructured":"Anker\u00a0P, F\u00e9s\u0171s\u00a0L, Kiss\u00a0N et\u00a0al (2021) Visualization of keratin with diffuse Reflectance and autofluorescence imaging and nonlinear optical microscopy in a\u00a0rare keratinopathic Ichthyosis. 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