Rare genetic disease in which nucleotide excision repair is defective and the cell thus is deficient in repairing DNA damaged by UV. Problems found in XP patients include sun sensitivity, freckling, and cancers of sun exposed areas of the skin, eyes, ears, mouth, and nose. In addition, some XP patients develop neurological problems such as intellectual impairment, deafness, speech problems, and difficulty walking.
A genetic condition marked by an extreme sensitivity to ultraviolet radiation, including sunlight. People with xeroderma pigmentosum are not able to repair skin damage from the sun and other sources of ultraviolet radiation, and have a very high risk of skin cancer.
autosomal recessive disease associated with a high sensitivity to UV radiation in sunlight due to a deficiency in DNA repair enzyme, DNA-specific endonuclease; results in a high incidence of skin tumors (basal cell carcinoma, squamous cell carcinoma, melanoma).
a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processesm are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light
A genetic disorder in which the skin is extremely sensitive to sunlight, causing it to age prematurely and leaving the individual particularly susceptible to skin cancer.
A genetic condition characterized by a sensitivity to all sources of ultraviolet radiation.
a rare genetic defect in ultraviolet radiation induced dna repair mechanisms; characterized by severe sensitivity to all sources of uv radiation (especially sunlight). xeroderma pigmentosum is categorized in complementation groups according to the capacity of the body to repair dna. groups a, c, d and variant make up over 90% of xp cases. group a, for example, has the lowest level of dna repair and the most neurological manifestations.
A rare hereditary skin disorder caused by a defect in the enzymes that repair DNA damaged by ultraviolet light and resulting in hypersensitivity to the carcinogenic effect of ultraviolet light.
Xeroderma pigmentosum, or XP, is a genetic disorder of DNA repair in which the body's normal ability to remove damage caused by ultraviolet (UV) light is deficient. This leads to multiple basaliomas and other skin malignancies at a young age. In severe cases, it is necessary to avoid sunlight.
