Xeroderma pigmentosum with ocular involvement and squamous cell carcinoma: A case report

Abstract

Xeroderma Pigmentosum is a rare, autosomal recessive genetic disorder, characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents. Patients with xeroderma pigmentosum often have cutaneous and ocular sun sensitivity and freckle-like skin pigmentation. Skin changes are the most important symptoms and they manifest as erythema, painful blisters and ulceration. The last level of skin changes transformation are malignant neoplasms, particularly squamous cell carcinoma. There is a great involvement of many parts of the body, especially the head and neck. This paper describes a case of xeroderma pigmentosum with advanced cutaneous squamous cell carcinoma and ocular lesions in a nine-year-old boy. The extensive ultraviolet radiation-induced skin and eye damage are evidence of a failure to use sun-protection and a lack of appropriate medical care from childhood.

Keywords

• xeroderma pigmentosum
• squamous cell carcinoma
• pigmentary retinal degeneration
• genetic skin disorder