Background: We report a case of a phakomatous choristoma of the lower eyelid.
Methods: A subcutaneous tumor was excised from the eyelid.
Results: A 12-month-old girl was referred because of a tumor in her right lower eyelid, which had been present since birth. The subcutaneous tumor had remained unchanged and was considered a dermoid cyst. No other abnormalities were present. The tumor was excised. Histologically, the tumor consisted of abnormal lens tissue. The immunohistochemical profile included strong immunoreactivity for vimentin and S-100.
Conclusion: Phakomatous choristoma is an extraordinary rare tumor that probably develops from an abnormal separation or migration of cells from the lens placode into the mesodermal structures of the lid. Only 18 cases have been described so far, less than 5 in the European literature. This benign tumor may be confused with cutaneous adnexal neoplasms.