Purpose: To report the occurrence of ocular surface squamous neoplasia (OSSN) in a patient with Papillon-Lefevre syndrome.
Design: Interventional case report.
Methods: A 14-year-old boy presented with a progressively growing limbal lesion in the right eye for 2 months. He had associated erythematous scaly lesions on the elbows, knees, and feet with periodontosis suggestive of Papillon-Lefevre syndrome. An excision biopsy of the limbal tumor and a skin biopsy was performed.
Results: The limbal tumor showed features of carcinoma in situ with clear margins. The skin biopsy showed epidermal hyperplasia and hyperkeratosis with perivascular infiltrates, consistent with Papillon-Lefevre syndrome.
Conclusions: Ocular surface squamous neoplasia may occur in patients with Papillon-Lefevre syndrome, an association that to the best of our knowledge has not been previously reported.