Recurrent lacrimal gland choristoma of the ciliary body in an infant mimicking a medulloepithelioma

Abstract

Purpose: Choristoma is a congenital tumor made up of ectopic normal tissue. Different histopathologic subtypes have been described. Among them, lacrimal gland choristoma is found mainly in infants and can affect the iris, the ciliary body, or the choroid and epibulbar region. Our aims were to report a case of lacrimal gland choristoma, review the published cases, and present the main differential diagnoses.

Methods: A local resection of a limited mass of the ciliary body was performed on a 12-month-old girl who had a 6-month history of visual loss, leukocoria, and pupillary deformation.

Results: Histopathologically, we observed a well-demarcated lesion involved under the epithelium of the ciliary body. It was composed of acini delineated by a well-differentiated epithelium without atypia and mitotic figures. Immunohistochemical analyses confirmed the lacrimal nature with the expression of epithelial markers (cytokeratin 7 positive and cytokeratin 20 negative) and neuron-specific enolase without immunoreactivity for other neuronal markers. Two years later, a local recurrence appeared and was resected. It showed nearly the same histopathologic features.

Conclusions: Lacrimal gland choristoma is a very rare lesion of the infant. Diagnosis is based on a histopathologic analysis with immunohistochemical studies to exclude other differential diagnoses such as a more common malignant tumor in childhood, medulloepithelioma. This observation shows an atypical clinical presentation of this benign lesion characterized by local recurrences.