Xeroderma pigmentosum: diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches.

摘要: Summary Xeroderma pigmentosum (XP) is an autosomal recessive disease, caused by a gene defect in the nucleotide-excision-repair (NER) pathway or translesional DNA synthesis. At age of eight, patients already develop their first skin cancers due to this repair defect. In contrast, Caucasian population tumor formation UV exposed regions occurs at mean 60. The clinical picture among suffering from XP highly diverse and includes signs accelerated aging, UV-induced cancers, as well ophthalmologic neurological symptoms. Patients should therefore receive interdisciplinary care. This dermatologists, ophthalmologists, ENT specialists, neurologists, human geneticists. with are clinically diagnosed, but may be supported molecular-genetic functional analyses. These analyses allow pinpointing exact disease-causing (complementation group assignment, detection type location mutation within gene). resulting information relevant predict course disease symptoms probably will utilized for individualized therapeutic approaches future. Recently, enhanced photolesions xeroderma C cells induced translational readthrough premature termination codons certain antibiotics could demonstrated.