What is Xeroderma Pigmentosum?

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

It has an estimated prevalence of 1/1,000,000 in the USA and Europe, with higher figures in other countries (e.g. Japan, North Africa and Pakistan), particularly in communities with a high degree of consanguinity.

The French Health Authority issued a document intetended to health providers to outline the optimum management and integrated care pathway for patients with xeroderma pigmentosum (XP). To read this national diagnosis and treatment protocol for xeroderma pigmentosum, please click here.

Source: Orphanet
More information is available on Geneskin and Therapeutics in Dermatology

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