Congenital uveal malignant melanoma- A rare case report

Abstract

Purpose: To report a rare case of congenital uveal malignant melanoma from Indian subcontinent in an infant with multiple cutaneous naevi and no distant metastasis.

Observation: An 8 month old male child presented with proptosis and black discoloration in the right eye since birth. Enucleation of the right eye was performed and specimen sent for histopathology and immunohistochemical analysis. Results were strongly suggestive of a malignant melanoma of uvea. No metastasis was found on MRI scan of brain, chest and abdomen. Patient is on close follow up and will be subjected to metastasis workup every 6 months.

Conclusion and importance: This entity of congenital uveal malignant melanoma is rather rare with very few reported cases across the globe and needs further understanding of its correct line of treatment.

Keywords: Cutaneous naevi; Enucleation; Epitheloid cells; Immunohistochemistry; Malignant melanoma; Metastasis.

Fig. 1

Clinical photo-congenital malignant melanoma. A- Multiple cutaneous naevi on the back of the patient.; B- Right eye with proptosis and blackish discolouration present since birth; C- Enucleated right eye showing temporal discolouration of sclera with anterior ulcerated swelling adjoining the cornea; D- Right eye post enucleation with prosthesis in place.

Fig. 2

Investigation findings-congenital malignant melanoma. A- Microphotograph showing pigmented melanoma cells in the choroid with the use of Haematoxylin and Eosin stain. The tumour cells are large with residual chromatin in the nucleus and prominent nucleoli. Inset showing 4× magnification of the choroidal pigmented tumor. Blue arrow shows the sclera; B- MRI brain and orbit showing staphyloma with increase in anteroposterior diameter of the right globe; C- Immunohistochemistry showing positive for S100. D-haematoxylin and Eosin stained section of optic nerve showing no invasion of tumor cells. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.)