This report describes general characteristics of the group of diseases classified as xeroderma pigmentosum (XP). Xeroderma pigmentosum is a genetically heterogeneous disorder with multiple causative genes and mapped loci. A listing of subtypes can be found in the table, below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Mar. 2016 by FlyBase; FBrf0222196]
Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight, affecting repeatedly exposed skin and the eyes, and by a greatly increased risk of developing skin cancer. About 30 percent of people with xeroderma pigmentosum also develop progressive neurological abnormalities. [from Genetics Home Reference, Xeroderma pigmentosum; 2016.03.23]
Xeroderma pigmentosum is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (MIM:278800) (Satokata et al., 1992; pubmed:1372102). [from MIM:278700; 2016.03.09]
Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder. [from MIM:278700; 2016.03.09]
