Issue 1, 2013

Spotlight on ‘xeroderma pigmentosum’


Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair characterised by photosensitivity, progressive pigmentary change, and an increased incidence of ultraviolet (UV)-induced skin and mucous membrane cancers. Approximately 25% of XP patients also have progressive neurological degeneration. There are eight XP complementation groups (XP-A through to XP-G, and XP variant (XP-V)), corresponding to the affected DNA repair gene. Seven of these genes, XPA to XPG, are involved in nucleotide excision repair, removing UV-induced damage from DNA. The eighth gene, XPV (or POLH), encodes for DNA polymerase η, which is required for the replication of DNA containing unrepaired UV-induced damage. There is wide variability in clinical features both between and within XP complementation groups. The diagnosis is made clinically and confirmed by cellular tests for defective DNA repair. This is followed by identification of the defective gene (complementation analysis) and causative mutation(s). Although there is no cure, sun avoidance and regular follow-up to assess and treat any skin cancers increase life expectancy. The neurological abnormalities are progressive and result in a shortened lifespan. The study of patients with XP has highlighted the importance of nucleotide excision repair in the aetiology of skin cancers and neurological degeneration, and has solidified the link between UV exposure, DNA damage, somatic mutations and skin cancer.

Graphical abstract: Spotlight on ‘xeroderma pigmentosum’

Additions and corrections

Article information

Article type
25 Jul 2012
02 Oct 2012
First published
04 Oct 2012

Photochem. Photobiol. Sci., 2013,12, 78-84

Spotlight on ‘xeroderma pigmentosum’

H. Fassihi, Photochem. Photobiol. Sci., 2013, 12, 78 DOI: 10.1039/C2PP25267H

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