Purpose: To document a case of phakomatous choristoma (PC), a rare benign periocular tumor, and to review the literature on previously reported cases.
Methods: The authors describe a case of PC and its clinical, histopathological, immunohistochemical, and radiological features, and present findings from a comprehensive review of all previously reported cases of this rare pediatric tumor.
Results: This case report and review highlights the benign clinical nature of PC. It typically presents at birth as a lower eyelid mass involving the orbit. Definitive diagnosis is made with hematoxylin and eosin stain showing the tumor's histological similarities to lenticular tissue.
Conclusion: PC remains a rare entity that should be included in the differential of pediatric eyelid lesions. Surgical excision is curative, and the postoperative clinical course is unremarkable as there have been no reports of recurrence. Prompt recognition and surgical intervention may be warranted due to astigmatism and anisometropia induced by mass effect.
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