Xeroderma pigmentosum

Definition

Xeroderma pigmentosum (XP) is a rare genodermatosis characterised 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: XPA to XPG, and XP variant (XPV). The severity of the clinical manifestations and the age of onset are extremely variable and are in part dependent on exposure to sunlight and the complementation group.

Also indexed as

Nearby in Syndromes with skin or mucosal anomalies as a major feature

• LD27.0Ectodermal dysplasia syndromes
• LD27.2Syndromic ichthyosis
• LD27.3Genetic syndromes with hypertrichosis
• LD27.4Genetic syndromes affecting nails
• LD27.5Genetic hamartoneoplastic syndromes affecting the skin
• LD27.6Genetic lipodystrophy
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified