Xeroderma Pigmentosum With Ocular Surface Squamous Neoplasia: A Case Report

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder characterized by defective DNA repair. Patients with this disorder are at increased risk of developing various oculocutaneous malignancies. We report a rare case of a child with XP with bilateral ocular surface squamous neoplasia (OSSN) and left eye (OS) medial canthal basal cell carcinoma (BCC). Ultrasound biomicroscopy and contrast-enhanced computed tomography (CECT) of the orbit showed intraocular extension with no orbital involvement. The patient was started on topical interferon therapy in both eyes for OSSN. Topical 5% imiquimod was started for BCC for eight hours a day and then washed off. During follow-up, there was no recurrence of tumors. Since ocular and cutaneous neoplasms tend to occur at an early age in XP with a high rate of recurrence and they tend to be more aggressive, multimodal therapy with long-term follow-up is more advantageous for these patients. Topical 5% imiquimod can be used as a treatment for periocular BCC as an alternative to excision.