Seltene Erkrankungen der Mundhöhle, des Halses und des Pharynx

Zusammenfassung

Erkrankungen, welche mit einer Häufigkeit von weniger als 1–10 Fällen pro 10 000 Personen in der Bevölkerung 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. Für die Diagnosestellung einer seltenen Erkrankung bedarf es oftmals langer Zeit. Das Leben betroffener Patientinnen und Patienten ist häufig von Arztbesuchen und Krankenhausaufenthalten geprägt. 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 öffentlich zugänglichen Datenbanken gestiegen, die Etablierung von Selbsthilfegruppen hat zudem die Mündigkeit Betroffener gestärkt. 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 möglich werden, im Sinne der translationalen und personalisierten Medizin maßgeschneiderte Behandlungskonzepte für Patientinnen und Patienten mit seltenen Krankheiten zu erarbeiten. Mit dem vorliegenden Referat, welches sich mit seltenen Erkrankungen von Lippe, Mundhöhle, Pharynx und Halsweichteilen beschäftigt, soll ein Beitrag zu diesen Entwicklungen geleistet werden. Den Leserinnen und Lesern wird dabei ein kompakter Überblick zu einer Auswahl diesen anatomischen Bereich betreffender Krankheitsbilder gegeben. Verweise auf weiterführende Informationen für das medizinische Fachpersonal und betroffene Patientinnen und Patienten unterstützen die weitere Vertiefung ihres Wissens und führen gezielt zum aktuellen Kenntnisstand in diesem hoch-dynamischen Themengebiet.

Schlüsselwörter

Seltene Erkrankung - Hals - Pharynx - Mundhöhle - Lippe

Publication History

Article published online:
30 April 2021

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