Phakomatous Choristomas: A Case Report and Review of Literature

Abstract

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.

Lens Material of the Eyelid Masquerading as Phakomatous Choristoma After Cataract Surgery

“…These tumors present on H&E staining with aggregates of cuboidal cells with surrounding pseudo-glandular structures and a characteristic periodic-acid-Schiff (PAS)-positive basement membrane surrounding the ectopic lens cells, resembling a lens capsule. Scarcities of cytoplasmic organelles and "bladder" or Wedl cells, which are found in cataractous lenses, have been noted [6][7][8][9]. Immunohistochemistry will stain positive for S-100 as well as crystalline and vimentin, which are specific to human lenticular tissue.…”

“…Neuron-specific enolase, which has moderate activity in lens epithelium during the early stages of development, is found to be positive in these tumors [ 12 , 13 ]. Additionally, phakomatous choristoma usually involves the inferomedial eyelid or the anterior orbit and not the upper eyelid [ 7 ].…”