title: Xeroderma pigmentosum: diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches.
abstract: Xeroderma pigmentosum (XP) is an autosomal recessive disease, caused by a gene defect in the nucleotide-excision-repair (NER) pathway or in translesional DNA synthesis. At the age of eight, patients already develop their first skin cancers due to this DNA repair defect. In contrast, in the Caucasian population the first tumor formation in UV exposed skin regions occurs at a mean age of 60. The clinical picture among patients suffering from XP is highly diverse and includes signs of accelerated skin aging, and UV-induced skin cancers, as well as ophthalmologic and neurological symptoms. Patients should therefore receive interdisciplinary care. This includes dermatologists, ophthalmologists, ENT specialists, neurologists, and human geneticists. Patients with XP are clinically diagnosed, but this may be supported by molecular-genetic and functional analyses. These analyses allow pinpointing the exact disease-causing gene defect (complementation group assignment, detection of the type and location of the mutation within the gene). The resulting information is already relevant to predict the course of disease and symptoms and probably will be utilized for individualized therapeutic approaches in the future. Recently, enhanced repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons by certain antibiotics could be demonstrated.
authors.affiliation: Department of Dermatology, Venereology, and Allergology, University Hospital at the Georg August University Göttingen, Göttingen, Germany.
authors.forename: Janin
authors.initials: J
authors.lastname: Lehmann
authors.forename: Steffen
authors.initials: S
authors.lastname: Schubert
authors.forename: Steffen
authors.initials: S
authors.lastname: Emmert
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003299:Cooperative Behavior; D004252:DNA Mutational Analysis; D005816:Genetic Complementation Test; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D033183:Interdisciplinary Communication; D009381:Neoplasms, Radiation-Induced / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D057285:Precision Medicine; D011379:Prognosis; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D055815:Young Adult