Two Cases of Xeroderma Pigmentosum with Skin Cancer

Abstract

Xeroderma pigmentosum is a rare autosomal recessive disease associated with sun sensitivity, photophobia, early onset of freckling, and subsequent neoplastic changes to sun-exposed areas. The repair of ultraviolet-induced DNA damage is impaired in xeroderma pigmentosum owing to mutations in genes that form part of a DNA-repair pathway. This is known as nucleotide excision repair, and which is because of the DNA-endonuclease deficiency that initiated the excision process. We report two cases of xeroderma pigmentosum with skin cancer: one is a 13-year-old female with basal cell carcinoma and squamous cell carcinoma, and the other is a 49-year-old male with basal cell carcinoma, squamous cell carcinoma, and malignant melanoma.