Xeroderma pigmentosum

Xeroderma pigmentosum is a group of inherited disorders in which defective DNA repair causes extreme sensitivity to ultraviolet radiation and greatly increases skin-cancer risk.

Nucleotide excision repair: A DNA-repair pathway that removes bulky lesions, including damage caused by ultraviolet light. Defects in this pathway cause most xeroderma pigmentosum groups.
Photoprotection: Measures that reduce exposure to damaging light, including clothing, shade, and ultraviolet-blocking materials. Strict light avoidance is the main way to prevent additional DNA damage in XP.
James Cleaver: A molecular biologist who linked xeroderma pigmentosum to defective repair of ultraviolet-damaged DNA. His cell studies provided direct evidence for the repair defect underlying XP.
Cockayne syndrome: An inherited disorder marked by impaired transcription-coupled DNA repair, growth failure, and progressive neurological features. It can involve nucleotide excision repair defects but usually lacks XP's extreme skin-cancer predisposition.
Basal-cell carcinoma: A common skin cancer arising from basal cells in the epidermis. It is among the skin malignancies that occur unusually early in XP.
UV-specific endonuclease: An enzyme activity that cuts DNA near ultraviolet-induced lesions during nucleotide excision repair. Its discovery helped establish defective excision repair as the disease mechanism.
Dermatologic surveillance: Regular skin examinations used to detect skin disease and cancer early. Frequent examinations help identify malignancies before they become advanced.
James E. Robbins: A physician and researcher known for work on xeroderma pigmentosum and DNA repair. His research helped characterize XP cells and their response to UV damage.
Trichothiodystrophy: A group of inherited disorders characterized by brittle sulfur-deficient hair and variable developmental or skin findings. Some forms share repair-gene defects with XP but have a distinct clinical pattern.
Squamous-cell carcinoma: A cancer of squamous cells, including cells in the outer layers of the skin. UV-driven squamous-cell cancers are a major hazard for people with XP.

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DNA damage responseRelated: The disease provided early evidence that cells require specific pathways to repair DNA lesions.