Phakomatous choristoma: A rare orbital tumor presenting as an eyelid mass with obstruction of the nasolacrimal duct

Phakomatous Choristoma in a 10‐Week‐Old Boy: A Case Report and Review of the Literature

“…The cells contain uniform ovoid nuclei with finely dispersed chromatin and abundant pale eosinophilic cytoplasm. Some cells may be large and swollen, with features of degeneration, closely resembling the so‐called Wedl or bladder cells seen in posterior subcapsular cataractous lenses . Pigment granules may be observed in the cytoplasm of the epithelioid cells, and psammomatous or dystrophic calcifications, similar to those seen in cataractous lenses, are sometimes seen in the stroma .…”

“…Magnetic resonance imaging demonstrating a well-defined, mildly enhancing 1.1-cm left infraorbital subcutaneous nodule that is hypointense to brain parenchyma and shows no fluid signal. posterior subcapsular cataractous lenses (1,5). Pigment granules may be observed in the cytoplasm of the epithelioid cells, and psammomatous or dystrophic calcifications, similar to those seen in cataractous lenses, are sometimes seen in the stroma (5).…”

“…posterior subcapsular cataractous lenses (1,5). Pigment granules may be observed in the cytoplasm of the epithelioid cells, and psammomatous or dystrophic calcifications, similar to those seen in cataractous lenses, are sometimes seen in the stroma (5). The presence of dystrophic calcifications in cataractous lenses are due to the secondary accumulation of granular calcareous material and crystalline bodies of calcospherites, and the same mechanism may play a role in their formation in PC (8).…”

“…Phakomatous choristoma (PC) is a rare benign proliferation of ectopic lens tissue, with few cases reported in the English literature since its initial description in 1971 (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14). Although there is consensus that this lesion arises from lenticular anlage, numerous theories have been proposed regarding its pathogenesis.…”

Magnetic resonance imaging of a phakomatous choristoma

“…Phakomatous choristoma has been described as a welldefined subcutaneous mass in the inferomedial eyelid or orbit. Imaging diagnostics have been limited to CT findings, which show a homogeneous contrast-enhancing soft-tissue mass that causes a slightly lateral displacement of the globe [2]. The clinical differential diagnoses include benign entities, above all dermoid cysts, but also malignancies in infancy such as rhabdomyosarcoma.…”