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  • How common is xeroderma pigmentosum

    • Xeroderma pigmentosum is due to defect in.

    Xeroderma pigmentosum causes

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    • Xeroderma pigmentosum

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    • Open access
    • Published:

    Orphanet Journal of Rare Diseasesvolume 6, Article number: 70 (2011) Cite this article

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    Abstract

    Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers.

    It is a rare autosomal recessive disorder and has been found in all continents and racial groups. Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live births in Western Europe.

    The first features are either extreme sensitivity to sunlight, triggering severe sunburn, or, in patients who do not show this sun-sensitivity, abnormal lentiginosis (freckle-like pigmentation due to increased numbers of melanocytes) on sun-exposed areas.

    This is followed by areas of increased or decreased pigmentation, skin aging and multiple skin cancers, if the individuals are not protected from sunlight. A minority of patients show

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