RT Journal Article
SR Electronic
T1 Xeroderma Pigmentosum – Facts and Perspectives
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 1159
OP 1164
VO 38
IS 2
A1 JANIN LEHMANN
A1 CHRISTINA SEEBODE
A1 MARIE CHRISTINE MARTENS
A1 STEFFEN EMMERT
YR 2018
UL http://ar.iiarjournals.org/content/38/2/1159.abstract
AB Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably increased risk of developing UV-induced skin cancer. XP belongs to the group of DNA repair defective disorders that are mainly diagnosed in the clinic and in hindsight confirmed at the molecular level. Unfortunately, there are no causative treatment options for this rare, autosomal-recessive disorder, emphasizing the importance of an early diagnosis. Subsequently, UV-protective measures such as the reduction of exposure to environmental UV and regular skin cancer screenings should be undertaken to substantially improve prognosis as well as the disease course.