Congenital uveal melanoma?

A 3-month-old infant with a white mother and Asian father presented with discoloration and prominence of the left eye since birth. Examination revealed a normal right eye. The left eye had hyperchromic heterochromia and an enlarged cornea (diameter, 13.0 mm) with intraocular pressure of 26 mm Hg. There were multiple areas of subconjunctival nodular pigmentation that extended posteriorly into the superior fornix. Fundus examination showed a large ciliochoroidal pigmented mass extending from 10:30 to 3:00 o'clock position involving the superior half of the choroid and adjacent ciliary body. The eye was enucleated, confirming the diagnosis of diffuse uveal melanoma with extraocular extension. Systemic surveillance (hepatic panel and ultrasonography of the liver) performed every 6 months for 5 years was has been negative for metastases. The tumor was investigated intensively for the panel of genes (BAP1, BRAF, NRAS12, NRAS61, GNAQ, Kit 9,11,13,17,18) implicated in pathogenesis of blue nevus, cutaneous melanoma, and mucosal melanomas with negative results. Moreover, germline BAP1 mutation could not be identified. This case possibly represents as yet unidentified uveal melanocytic proliferation rather than a true variant of uveal melanoma.

[Ocular melanocytosis and delayed psycho-intellectual development--other association?]. / Melanocitoza oculara congenitala si întârziere în dezvolarea psihointelectuala--o alta asociere?

Congenital ocular melanocytosis (COM) is an extremely rare melanocytic hyperplasia (0.038% in Caucasian population); it affects episclera and sclera. The conjunctival epithelium is not affected, as opposed to conjunctival melanosis. The pigmentation is grayish-blue and its consistency with the underlying tissues as the conjunctiva moves (deep pigmentation) is an essential diagnostic clue. COM may be isolated or associated with facial pigmentation, in the area innervated by the trigeminal nerve--known as oculodermal melanocytosis or nevus of Ota. COM may associate the following findings: iris hypercromia, iris mammillations, fundus hypercromia, uveal melanoma (most frequent choroidal melanoma) and glaucoma (10%). Melanocytes have been found in the brain, orbit, bucal mucosa in COM.

Congenital adenoma of the iris and ciliary body: light and electron microscopic observations.

A 23-year-old man had a lesion in the right inferior iris which appeared to have enlarged since it was first seen when the patient was aged 5 years. The lesion was excised by a partial iridocyclectomy. Histopathologically the neoplasm was composed of both pigmented and non-pigmented cells. Pseudoacini, containing acid mucopolysaccharides, were present throughout the tumour matrix. Electron microscopically the non-pigmented cells were found to possess a convoluted plasmalemma, abundant rough endoplasmic reticulum, and numerous desmosomes and gap junctions. The pigmented cells contained large, round, mature melanosomes, occasional premelanosomes, and desmosomes, which resembled the posterior pigment epithelium of the iris. The intercellular matrix contained fine collagen fibrils resembling vitreous. We believe that this neoplasm represents a congenital adenoma of the ciliary body and iris.