title: Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: UK National Xeroderma Pigmentosum Service, Department of Photodermatology, St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, U.K.
authors.forename: M
authors.initials: M
authors.lastname: Sethi
authors.forename: A R
authors.initials: AR
authors.lastname: Lehmann
authors.forename: H
authors.initials: H
authors.lastname: Fawcett
authors.forename: M
authors.initials: M
authors.lastname: Stefanini
authors.forename: N
authors.initials: N
authors.lastname: Jaspers
authors.forename: K
authors.initials: K
authors.lastname: Mullard
authors.forename: S
authors.initials: S
authors.lastname: Turner
authors.forename: A
authors.initials: A
authors.lastname: Robson
authors.forename: D
authors.initials: D
authors.lastname: McGibbon
authors.forename: R
authors.initials: R
authors.lastname: Sarkany
authors.forename: H
authors.initials: H
authors.lastname: Fassihi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008545:Melanoma / Q000208:ethnology / Q000401:mortality / Q000473:pathology; D008875:Middle Aged; D009422:Nervous System Diseases / Q000208:ethnology / Q000401:mortality / Q000473:pathology; D012878:Skin Neoplasms / Q000208:ethnology / Q000473:pathology; D013471:Sunburn / Q000208:ethnology / Q000401:mortality / Q000473:pathology*; D014983:Xeroderma Pigmentosum / Q000208:ethnology / Q000401:mortality / Q000473:pathology*; D055815:Young Adult