NCIt definition : An inherited skin disorder characterized by photosensitivity with severe sunburn in
infancy, the development of numerous pigmented spots resembling freckles, larger atrophic
lesions associated with telangiectasis, and multiple solar keratoses. Transmitted
in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide
excision repair (NER), leading to deficient repair of DNA damaged by UV radiation
and chromosome breakage. Individuals with this disease develop multiple malignant
cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic
abnormalities.;
Alternative definition : NCI-GLOSS: 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.;