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Diagnosis of Xeroderma Pigmentosum

James E Cleaver, PhD

Xeroderma pigmentosum (XP) is a rare, human, autosomally inherited skin and neurodegenerative disease [1] that is associated with a very high incidence of skin and mucous membrane cancers due to exposure to normal sunlight. These cancers include squamous and basal cell carcinomas and melanomas, and are predominantly caused by exposure to ultraviolet B (UVB) radiation, although UVA cannot be excluded [2,3]. UVB (280–320 nm) is the shorter wavelength radiation in sunlight that is responsible for most sun-induced cancers in the general population, as well as in XP patients. The relative incidence of the various forms of skin cancers in XP patients is similar to that in the general population [4].

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