Abstract
Xeroderma pigmentosum is a rare autosomal recessive genodermatosis characterized by photosensitivity and the development of cutaneous and internal malignancies at an early age. The clinical manifestations basic defect is a nucleotide excision repair defect, leading to deficient repair of DNA damaged by ultraviolet radiation. These patients exhibit increased sensitivity to ionizing radiation Patients with xeroderma pigmentosum who are younger than 20 years old have a significantly higher than a 1000-fold increased risk of developing skin cancer. Early diagnosis of these tumors is crucial because they are fast-growing, early metastasizing, and lead to death. However, early detection and treatment of cutaneous malignancies will decrease morbidity and mortality. Genetic counselling remains the most crucial measure for preventing xeroderma pigmentosum. We report a case of xeroderma pigmentosum in a 17-year-old girl presenting with a giant malignant tumor on her face, emphasizing the importance of early diagnosis and management.
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