Zusammenfassung
Etwa 9000 unterschiedliche Phänotypen sind in der Medizin bekannt. Die Definition Phänotyp beinhaltet sowohl manifeste Erkrankungen als auch Merkmale ohne Krankheitswert und die rein genetische Disposition, eine Erkrankung zu entwickeln (z. B. Tumorerkrankungen oder komplexe Erkrankungen). Bei den meisten Phänotypen handelt es sich jedoch um seltene, monogen erbliche Krankheiten. Etwa 6400 dieser Phänotypen konnten bislang molekulargenetisch aufgeklärt werden, verursacht durch Mutationen in 4064 unterschiedlichen Genen. Von allen genetisch bedingten Krankheiten geht schätzungsweise ein Drittel mit Hautsymptomen einher. Als Genodermatosen werden die überwiegend die Haut betreffenden Phänotypen bezeichnet, von denen dem Dermatologen etwa 600 geläufig sind. Zu den Syndromen mit Schuppung und Keratosen gehören Verhornungsstörungen, deren Symptome nicht nur auf die Haut beschränkt sind. Sie sind einerseits mit Hautbeteiligung wie Ichthyose, Erythrodermie und palmoplantarer Keratodermie assoziiert, zeigen jedoch zusätzliche Symptome aus anderen Organgruppen. Die typische Kombination von Symptomen kann für ein Syndrom einzigartig und deshalb für die Diagnosestellung wegweisend sein.
Abstract
Approximately 9000 different phenotypes are known in medicine. The definition phenotype includes both manifest diseases as well as features without any disease value and the pure genetic disposition to develop a disease (e.g. tumors or complex diseases); however, most phenotypes are rare monogenic hereditary diseases. Approximately 6400 of these phenotypes have so far been elucidated by molecular genetics and are caused by mutations in 4064 different genes. Of all genetic diseases, an estimated one third are associated with skin symptoms. Genodermatoses are the phenotypes predominantly related to the skin, of which approximately 600 are familiar to dermatologists. The syndromes with scaling and keratosis include cornification disorders where the symptoms are not limited to the skin. They are associated with skin symptoms such as ichthyosis, erythroderma and palmoplantar keratoderma but show additional symptoms from other organ groups. The typical combination of symptoms may be unique to a syndrome and therefore seminal for the diagnosis.
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Die Autorin dankt Prof. B. Bouadjar (Algier, Algerien), Dr. E. Bourrat (Paris, Frankreich) und Dr. S. Marrakchi für die Bereitstellung von ausgezeichnetem Fotomaterial.
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Fischer, J. Syndrome mit Schuppung und Keratosen. Hautarzt 70, 497–505 (2019). https://doi.org/10.1007/s00105-019-4417-5
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DOI: https://doi.org/10.1007/s00105-019-4417-5