Xeroderma pigmentosa with corneal involvement

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective DNA repair, leading to extreme sensitivity to ultraviolet radiation and a high risk of cutaneous and ocular malignancies. This case report presents a case of a 14-year-old boy with XP who experienced photophobia along with significant ocular surface squamous neoplasia (OSSN). The patient’s family history indicated hereditary involvement. Ocular examination revealed OSSN, treated with topical 1% 5-fluorouracil (5-FU) four times daily for 1 week, followed by a 3-week drug holiday, repeated for three cycles. Significant improvement was observed in tumor size and ocular symptoms post-treatment. This case report highlights the effectiveness of 5-FU as a noninvasive, cost-effective alternative to other chemotherapeutic agents and surgical excision in managing OSSN in XP patients, emphasizing the importance of tailored treatment strategies and the necessity of long-term monitoring due to the ongoing risk of recurrence and malignancy.