Xeroderma pigmentosum is a rare, autosomal recessive condition characterised by dry photosensitive skin which is liable to freckling, keratoses and malignant transformation. The skin is sensitive to ultraviolet light because of a deficiency in at least seven enzymes required for DNA repair.
The condition begins in the first years of life when photosensitivity develops. There is early development of excessive freckling, telangiectasia, keratomas, papillomas and malignancies in sun-exposed skin, severe ophthalmic abnormalities, and in some cases, neurological disorders, particularly, progressive cerebrospinal degeneration.
The protection of the skin from ultraviolet light is paramount.
Last reviewed 01/2018