Xeroderma pigmentosum essay

XP was first described by two dermatologists in Vienna, Ferdinand Ritter von Hebra and Moritz Kapozi in the year 1870. The term “xeroderma” denotes “parchment skin” while “pigmentosum” was added later to indicate and emphasize the characterised pigmentation abnormalities (14-15).

Researchers have identified that there are 8 complementation groups of XP and they are XP-A-G and XP variant group. XPA-G are known as the classical forms of XP while the XP-V which is not associated with a defective NER, constituting 20% of the cases of XP.

The bacterial enzyme T4 Endonuclease V has recently been put in use for treating XP and gene replacement therapy might be a possible treatment for the future. If you need assistance with writing your essay, our professional essay writing service is here to help!

Xeroderma Pigmentosum is a rare autosomal recessive disease affecting about 1 in 250,000 people in Europe which greatly reduces the quality of life of its sufferer. XP patients have a much greater chance of developing skin neoplasms, internal organs neoplasms or even neurological disorder due to a defective Nucleotide Excision Repair (NER) pathway.