Ocular melanomas in xeroderma pigmentosum.

Abstract

CASE 1 A 22-year-old woman presented with a pigmented right limbal lesion. She had progressive sensorineural deafness from childhood. Parental consanguinity could not be established. Multiple, pigmented, irregular freckles were evident on the exposed skin of her face, arms, and legs. Ophthalmic examination revealed a raised pigmented lesion ofthe right limbus associated with an area of conjunctival melanosis. Histology of the biopsy specimen showed a mass of pleomorphic cells with hyperchromatic nuclei and a high mitotic count. Dark brown pigment deposits proved to be melanin supporting the diagnosis of malignant melanoma of the conjunctiva. Two years later she presented with a pigmented mass on the inferior bulbar conjunctiva of the right eye. Histology showed spindle shaped cells with nuclear pleomorphism and frequent mitotic figures. The diagnosis of malignant melanoma was supported by immunocytochemical studies which showed expression of the S-100 protein and HMB-45 antigen by the tumour cells. and 2B). The pleomorphic multinucleated spindle cells contained melanin pigment and the mitotic count was high with abnormal tripolar forms. Immunocytochemical studies showed no expression of S-100 or HMB-45.