The Price of Exposure: Xeroderma Pigmentosum and Skin Cancer

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis characterized by a defect in the nucleotide excision repair pathway of DNA. This condition leads to extreme photosensitivity, pigmentary changes, premature aging, and increased risk of UV-induced skin and mucous membrane neoplasms. We report a case of squamous cell carcinoma in a 55-year-old female with XP. A 55-year-old female presented with a single asymptomatic skin lesion on the left cheek that had developed over the past two years. Examination revealed a well-defined, round to oval black raised nodulo-plaque, with a central adherent crust and raised superior margin. Histopathological examination revealed an invasive tumor arising from hyperplastic and dysplastic squamous epithelium with cytokeratin positivity. XP presents significant clinical challenges due to its severe photosensitivity and the associated risk of developing multiple skin cancers at a young age, which highlights the necessity for ongoing research into effective treatments and preventive strategies. Genetic counseling can play a vital role for families, enabling them to understand the implications for future generations. Increased awareness can help improve the quality of life and reduce the incidence of associated malignancies.