TMSS Medical College Journal

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, in which the ability of the DNA repair is impaired, symptom presentation is majorly observed over the skin exposed to sunlight and can range from minor hyperpigmentation to ulcerative nodules. Frequently this can be associated with cutaneous malignancies Early detection of these malignancies is necessary because they are fast growing, metastasize early and leads to death. This paper describes a case of xeroderma pigmentosum with multiple cutaneous squamous cell carcinomas in a 12-year old boy.

Xeroderma Pigmentosum (XP) first described by Hebra and Kaposi in 1874. It is a rare autosomal recessive genetic disorder characterized by defective DNA repair which leads to clinical and cellular hypersensitivity to ultraviolet radiation and other carcinogenic agents.” In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to the characteristic dry, pigmented skin seen in these patients.’ XP is a genodermatosis characterized by photosensitivity, cutaneous pigmentary changes, premature skin aging and the development of cutaneous and internal malignancies at an early age. These patients exhibit enhanced sensitivity to ionizing radiation. Synchronous occurrence of multiple cutaneous malignancies in a patient of XP is extremely rare.