Purpose

23:T447, Purpose

To report a case of congenital phakomatous choristoma (PC) of the eyelid, a rare tumor of lenticular anlage in the subcutaneous tissue and dermis.

Case

A boy had a mass in the right lower eyelid near the inner canthus at birth. At age 10 months, the tumor was excised.

Results

The tumor cells showed intense immunoreactivity positive for S-100 protein, vimentin, and periodic acid-Schiff. Keratin markers, epithelial membrane antigen, glial fibrillary acidic protein, muscle specific actin, and epithelial membrane antigen were negative. The histopathologic features were consistent with those of a PC.

Conclusions

This histopathologic and immunoreactivity study supports the proposal that PC is a rare entity of lenticular anlage origin. Only 18 such cases have been described previously.

24:T4cc,

Phakomatous choristoma was first described as a distinct pathologic entity by Zimmerman in 1971. Report of only 26 cases of this tumor so far is an indicator of the rarity of phakomatous choristoma. We present a 4-month-old infant with an orbital mass beneath the right lower eyelid. Surgical excision was undertaken and the histopathologic findings of a dense fibrocollagenous stroma containing small to medium size islands and glandular-like structures surrounded by thick basement membrane and filled by amorphous eosinophilic material confirmed the diagnosis. Immunohistochemical study showed positive staining for S-100 and vimentin and negative staining for cytokeratins, glial fibrillary acidic protein, smooth muscle actin, synaptophysin, CD34, melan-A, and epithelial membrane antigen markers. This is the first patient with phakomatous choristoma presented from our country and the 27th reported case worldwide. Phakomatous choristoma is a rare, benign congenital tumor of lenticular anlage, almost always presenting in the medial lower eyelid and anterior orbit. Surgical excision is curative and allows precise diagnosis due to the unique histopathologic and immunostaining characteristics of this choristoma.

Search results

Eyelid Phakomatous Choristoma

Phakomatous Choristoma of the Eyelid and Orbit: A Case Report