Abstract:
Xeroderma pigmentosum is a genodermatosis characterized by photosensitivity and the development of cutaneous and internal
malignancies at an early age. The basic defect underlying the clinical manifestations is a nucleotide excision repair defect, leading
to defective repair of DNA damaged by ultraviolet radiation. These patients exhibit enhanced sensitivity to ionizing radiation. Patients
with xeroderma pigmentosum who are younger than 20 years of age have a greater than 1000-fold increased risk of developing skin
cancer. Early detection of these malignancies is necessary because they are fast growing, metastasize early and lead to death. Although,
early detection and treatment of cutaneous malignancies will reduce the morbidity and mortality, genetic counseling remains the most
important measure for preventing xeroderma pigmentosum. We report a case of xeroderma pigmentosum in an 18-year-old male
presenting with multiple cutaneous malignancies: squamous cell carcinoma, malignant melanoma and pigmented basal cell carcinoma.
