Xeroderma pigmentosum
From Ganfyd
Web Resources for Xeroderma pigmentosum
Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Xeroderma pigmentosum (Less technical, good quality control)
Wikipedia on Xeroderma pigmentosum (Less technical, ? quality control)
A deficit in the nucleotide excision repair complex causes:
- Photosensitivity
- Skin malignancy (non melanomatic) at an early age
It may be associated with other neurological or hair abnormalities. It was first described by Moriz Kaposi in 1870.
The genetics of the various forms are well worked out and have helped revealed the functional importance of the various proteins in the nucleotide excision repair complex.
