Xeroderma pigmentosum – Fakten und Perspektiven

Zusammenfassung

Die Nukleotid-Exzisions-Reparatur (NER) ist für die Beseitigung von ultraviolett (UV) -induzierten DNA-Schäden und damit zur Vermeidung von Hautkrebs essenziell. Menschen mit einem genetischen Defekt in der NER, Xeroderma pigmentosum (XP) -Patienten, sind äußerst sonnenempfindlich. Sie entwickeln bereits in den ersten Lebensjahren Zeichen der vorzeitigen Hautalterung mit einem deutlich erhöhten Risiko zur Entwicklung von UV-induzierten kutanen Karzinomen. DNA-Reparaturdefektsyndrome werden vorrangig in der Klinik diagnostiziert und auf molekularer Ebene bestätigt. Für die seltene, rezessiv vererbte Erkrankung XP steht zum jetzigen Zeitpunkt leider noch keine kausale Therapie zur Verfügung, weshalb eine frühe Diagnosestellung umso bedeutsamer ist. Durch frühzeitige sowie konsequente UV-protektive Maßnahmen und eine regelmäßige Überprüfung der Haut im Zuge der Hautkrebsfrüherkennung werden sowohl die Prognose als auch Krankheitsverlauf maßgeblich verbessert.

Abstract

The Nucleotide Excision Repair (NER) removes ultraviolet (UV)-induced DNA lesions, thereby being essential for prevention of skin cancer. Individuals with a genetic defect in NER, xeroderma pigmentosum (XP) patients, are extremely sun sensitive. This results in first signs of premature skin aging at an early age with a considerably increased risk of developing UV-induced skin cancer. DNA repair defective disorders are diagnosed mainly in the clinic and confirmed on the molecular basis. At this moment, there is no treatment available for the rare, autosomal recessive disorder XP, highlighting the importance of an early diagnosis. Reduction of environmental UV exposure and regular skin cancer screenings can substantially improve prognosis as well as course of disease.

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