Xeroderma pigmentosum: the role of phototesting.
We report three patients newly diagnosed as having xeroderma pigmentosum (XP). Previous photobiological studies have implicated ultraviolet (UV) B as the activating waveband in XP, causing a delayed and prolonged erythemal response. This characteristic reaction pattern has been used as a quick screening test in patients suspected of having XP, while awaiting confirmatory DNA repair studies. Two of our patients showed no abnormal erythemal responses, and one showed severe photosensitivity from 330 to 400 nm but normal UVB responses, with a peak erythema at 24 h. We conclude that the erythemal responses in XP are highly variable and cannot be considered as a reliable screening test in the diagnosis of XP.
Stone
N
N
Photodermatology Unit, Amersham Hospital, Amersham, Buckinghamshire HP7 0JD, UK.
Reed
J
J
Mahood
J
J
Hardwick
N
N
George
S
S
D002648:Child; D002675:Child, Preschool; D004890:Erythema / Q000209:etiology*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014466:Ultraviolet Rays / Q000009:adverse effects*; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics