What is xeroderma pigmentosum?

Updated: Jan 30, 2020
  • Author: Ginard I Henry, MD; Chief Editor: Gregory Gary Caputy, MD, PhD, FICS  more...
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Answer

Answer

Xeroderma pigmentosum is an autosomal recessive disorder in which the individual is left essentially unprotected from ionizing radiation. The mechanism is well understood and involves the absence of certain DNA repair mechanisms for pyrimidine dimers that have been formed following actinic radiation change. Within the patient, ultraviolet exposure develops the full spectrum of actinic injury. Basal and squamous cell carcinomas and malignant melanomas may be found. Additionally, pigmentary changes and hyperkeratoses are ubiquitous within the skin surface.


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