Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions (pages 1279–1287)
M. Sethi, A.R. Lehmann, H. Fawcett, M. Stefanini, N. Jaspers, K. Mullard, S. Turner, A. Robson, D. McGibbon, R. Sarkany and H. Fassihi
Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12523
What's already known about this topic?
- Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair.
- It is characterized by pigmentary skin changes, significantly increased risk of skin cancer, and progressive neurological disease in about 25% of cases.
- It is subdivided 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 previously been considered a cardinal feature of classical XP.
- Recent data from a cohort of patients with XP at the National Institutes of Health in the U.S.A. have shown that about a third of their patients with XP have never sunburned.
What does this study add?
- Not all patients with classical XP have severe and prolonged sunburn reactions.
- There is a correlation between response to sun exposure and XP complementation group.
- Patients with XP-C, XP-E and XP-V have sunburn reactions normal for skin-type compared with unaffected controls.
- Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn. This has important diagnostic and prognostic implications.