Definition of Xeroderma Pigmentosum

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.

Xeroderma Pigmentosum is from the group

Cutaneous Precancerous Condition
DNA Repair Disorder

Other Names for Xeroderma Pigmentosum

Xeroderma Pigmentosum
Angioma Pigmentosum Atrophicum
Atrophoderma Pigmentosum
Kaposi Dermatosis
Kaposi Disease
Melanosis Lenticularis Progressiva
Pigmented Epitheliomatosis
Xeroderma Pigmentosum Syndrome
Xeroderma of Kaposi
Xeroderma pigmentosum

Source

NCI Thesaurus License