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xeroderma pigmentosum

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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.

  • estimated frequency is one case per 250,000 population in the United States and Europe (1)
  • within the first few years of life, BCC, SCC, sarcomas and MM start to develop if sun protection does not occur (1)

The protection of the skin from ultraviolet light is paramount.

Click here for an example image of this condition

Management (2):

  • patients will often require a multidisciplinary team-approach with dermatologists and plastic surgeons
  • genetic counselling is also needed - parents who have a child with XP have a one in four chance of having another affected child



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