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Definition

An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features.

Acronym

XP-E

Synonyms

Xeroderma pigmentosum V
XP5
XP group E

Keywords

Xeroderma pigmentosum

 
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