Pacientes con XP-C, XP-E y XP-V no presentan historial atípico dequemaduras solares

Un reciente estudio publicado en British Journal of Dermatology demuestra que pacientes con XP pertenecientes a los grupos de complementación C, E y V (variante) presentan un historial de quemaduras solares muy similar al del resto de la población, por lo que los pediatras deberían tener presente que casi la mitad de los casos de XP no presentan un historial atípico de quemaduras previas.
Provider: John Wiley & Sons, Ltd
Sethi, M.
AU  - Lehmann, A.R.
AU  - Fawcett, H.
AU  - Stefanini, M.
AU  - Jaspers, N.
AU  - Mullard, K.
AU  - Turner, S.
AU  - Robson, A.
AU  - McGibbon, D.
AU  - Sarkany, R.
AU  - Fassihi, H.
TI  -
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions
JO  - British Journal of Dermatology
JA  - Br J Dermatol
SN  - 1365-2133
UR  - 
DO  - 10.1111/bjd.12523
SP  - n/a
EP  - n/a
PY  - 2013
AB  -
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 XP patients and correlate this to the complementation group.


Sixty XP patients attending the UK 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 recorded.
Sunburn severity scores were abnormally high in XP-A, XP-D, XP-F and XP-G patients compared to non-XP controls. There was no significant difference in sunburn score of XP-C, XP-E and XP-V patients compared to 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, XP patients with severe sunburn had an increased frequency of neurological abnormalities.
Not all XP patients have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of XP-C, XP-E and XP-V patients 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 when compared to 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 XP patients will
present without a history of abnormal sunburn.
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