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Eyelid phakomatous choristoma
E Mencía-Gutiérrez1, E Gutiérrez-Díaz, J R Ricoy
1Department of Ophthalmology, Octubre Hospital, Complutense University, Madrid, Spain. emencia.hdoc@salud.madrid.org
Insights
Congenital phakomatous choristoma (PC) is a rare eyelid tumor originating from lenticular anlage. This case report details its histopathologic and immunoreactivity findings, supporting its unique nature.
Area of Science:
- Ophthalmology
- Pathology
- Developmental Biology
Background:
- Congenital phakomatous choristoma (PC) is an exceptionally rare tumor.
- It originates from lenticular anlage, typically found in subcutaneous tissue and dermis.
- This case presents a unique instance of PC in the eyelid.
Observation:
- A male infant presented with a congenital mass in the right lower eyelid near the inner canthus.
- The tumor was surgically excised at 10 months of age.
- Histopathologic examination revealed characteristic features of PC.
Findings:
- Tumor cells demonstrated strong positive immunoreactivity for S-100 protein, vimentin, and periodic acid-Schiff.
- Negative results were observed for keratin markers, epithelial membrane antigen, glial fibrillary acidic protein, and muscle-specific actin.
- These findings confirmed the diagnosis of phakomatous choristoma.
Implications:
- This study reinforces the understanding of PC as a rare entity with a distinct lenticular anlage origin.
- The histopathologic and immunoreactivity profile aids in differentiating PC from other eyelid tumors.
- Further research into the developmental origins and clinical behavior of PC is warranted given its rarity.
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.