{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T01:29:39Z","timestamp":1720574979099},"reference-count":210,"publisher":"Georg Thieme Verlag KG","issue":"S 01","license":[{"start":{"date-parts":[[2021,4,30]],"date-time":"2021-04-30T00:00:00Z","timestamp":1619740800000},"content-version":"vor","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Laryngorhinootologie"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Erkrankungen, welche mit einer H\u00e4ufigkeit von weniger als 1\u201310 F\u00e4llen pro 10\u2009000 Personen in der Bev\u00f6lkerung auftreten, gelten als selten. Derzeit sind zwischen 5000 und 8000 seltene Krankheiten bekannt, jedes Jahr werden etwa 250 seltene Krankheitsbilder neu beschrieben. Eine Vielzahl dieser Pathologien betrifft den Kopf-Halsbereich. F\u00fcr die Diagnosestellung einer seltenen Erkrankung bedarf es oftmals langer Zeit. Das Leben betroffener Patientinnen und Patienten ist h\u00e4ufig von Arztbesuchen und Krankenhausaufenthalten gepr\u00e4gt. Die meisten seltenen Krankheiten besitzen eine genetische Ursache und sind trotz des medizinischen Fortschritts bis heute unheilbar. In den letzten Jahren sind jedoch die Wahrnehmung und das Wissen von bzw. zu seltenen Krankheitsbildern unter anderem durch die Schaffung von \u00f6ffentlich zug\u00e4nglichen Datenbanken gestiegen, die Etablierung von Selbsthilfegruppen hat zudem die M\u00fcndigkeit Betroffener gest\u00e4rkt. Seit kurzem erlauben nun neuartige technische Errungenschaften im biomedizinischen Bereich genetische Ursachen seltener Erkrankungen bei einzelnen Patientinnen und Patienten individuell zu charakterisieren. Auf Grundlage dessen sollte es in naher Zukunft m\u00f6glich werden, im Sinne der translationalen und personalisierten Medizin ma\u00dfgeschneiderte Behandlungskonzepte f\u00fcr Patientinnen und Patienten mit seltenen Krankheiten zu erarbeiten. Mit dem vorliegenden Referat, welches sich mit seltenen Erkrankungen von Lippe, Mundh\u00f6hle, Pharynx und Halsweichteilen besch\u00e4ftigt, soll ein Beitrag zu diesen Entwicklungen geleistet werden. Den Leserinnen und Lesern wird dabei ein kompakter \u00dcberblick zu einer Auswahl diesen anatomischen Bereich betreffender Krankheitsbilder gegeben. Verweise auf weiterf\u00fchrende Informationen f\u00fcr das medizinische Fachpersonal und betroffene Patientinnen und Patienten unterst\u00fctzen die weitere Vertiefung ihres Wissens und f\u00fchren gezielt zum aktuellen Kenntnisstand in diesem hoch-dynamischen Themengebiet.<\/jats:p>","DOI":"10.1055\/a-1331-2851","type":"journal-article","created":{"date-parts":[[2021,4,30]],"date-time":"2021-04-30T23:32:31Z","timestamp":1619825551000},"page":"S1-S24","source":"Crossref","is-referenced-by-count":0,"special_numbering":"S","title":["Seltene Erkrankungen der Mundh\u00f6hle, des Halses und des Pharynx"],"prefix":"10.1055","volume":"100","author":[{"given":"Christoph A.","family":"Reichel","sequence":"additional","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Hals-Nasen-Ohrenheilkunde, KUM-Klinikum, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen, M\u00fcnchen"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,4,30]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1097\/MOO.0000000000000488","article-title":"Cervical osteophytosis and spine posture: contribution to swallow disorders and symptoms","volume":"26","author":"M Abdel-Aziz","year":"2018","journal-title":"Curr Opin Otolaryngol Head Neck Surg"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.otc.2006.10.009","article-title":"Congenital cervical cysts, sinuses and fistulae","volume":"40","author":"S P Acierno","year":"2007","journal-title":"Otolaryngol Clin North Am"},{"key":"ref3","first-page":"e1","article-title":"Ascher\u2019s syndrome: a rare cause of lip swelling","author":"M Al-Hassani","year":"2020","journal-title":"Ann R Coll Surg Engl"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1136\/jcp.2009.070201","article-title":"Can MDM2 and CDK4 make the diagnosis of well differentiated\/dedifferentiated liposarcoma? 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