Ocular Surface Squamous Neoplasia in Papillon-Lefèvre Syndrome: Outcome at Long-Term Follow-Up of 12 Years

• Published in: Cornea Vol. 36; no. 6; p. 743
• Main Authors: Kaliki, Swathi, Singh, Swati, Gowrishankar, Swarnalata, Reddy, Vijay Anand P
• Format: Journal Article
• Language: English
• Published: United States 01.06.2017
• Subjects: Adolescent; Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Brachytherapy; Combined Modality Therapy; Corneal Diseases - etiology; Corneal Diseases - pathology; Corneal Diseases - therapy; Eye Neoplasms - etiology; Eye Neoplasms - pathology; Eye Neoplasms - therapy; Fatal Outcome; Follow-Up Studies; Humans; Limbus Corneae - pathology; Male; Neoplasms, Squamous Cell - etiology; Neoplasms, Squamous Cell - pathology; Neoplasms, Squamous Cell - therapy; Papillon-Lefevre Disease - complications; Retrospective Studies
• ISSN: 1536-4798
• DOI: 10.1097/ICO.0000000000001179

To discuss the association between ocular surface squamous neoplasia (OSSN) and Papillon-Lefèvre syndrome (PLS) and present the long-term outcome in a patient with these diseases. Case report. A 14-year-old boy presented with a raised pigmented mass lesion at the limbus in the right eye, which was clinically suggestive of OSSN. He also had palmoplantar hyperkeratosis and periodontosis suggestive of PLS. Excision biopsy of the lesion confirmed the diagnosis of OSSN. He was free of tumor recurrence for 2 years and was lost to follow-up thereafter. Seven years later, the patient presented with diffuse tumor recurrence with orbital extension in the right eye, regional lymph node metastasis, and ipsilateral parotid gland infiltration. The patient underwent exenteration of the right orbital contents, right parotidectomy, and radical neck dissection followed by concomitant external beam radiotherapy and systemic chemotherapy. Eleven years from initial presentation, the patient was detected to have OSSN in the contralateral eye and was managed by wide excision biopsy and adjuvant cryotherapy. One year after detection of OSSN in the left eye, the patient was found to have systemic metastases to the lungs and brain. The patient died of the disease within 3 months of detection of systemic metastasis. OSSN in PLS is associated with poor prognosis.