Funding sources No external funding.
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions
Article first published online: 2 DEC 2013
© 2013 British Association of Dermatologists
British Journal of Dermatology
Volume 169, Issue 6, pages 1279–1287, December 2013
How to Cite
Sethi, M., Lehmann, A.R., Fawcett, H., Stefanini, M., Jaspers, N., Mullard, K., Turner, S., Robson, A., McGibbon, D., Sarkany, R. and Fassihi, H. (2013), Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. British Journal of Dermatology, 169: 1279–1287. doi: 10.1111/bjd.12523
Conflicts of interest None declared.
- Issue published online: 2 DEC 2013
- Article first published online: 2 DEC 2013
- Accepted manuscript online: 25 JUL 2013 02:35AM EST
- Manuscript Accepted: 17 JUL 2013
- the National Institute for Health Research
- Associazione Italiana per la Ricerca sul Cancro
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions.
To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group.
Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded.
Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities.
Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn.