[Conjunctival melanoma and xeroderma pigmentosum, a rare association].
ABSTRACT Ocular involvement in the xeroderma pigmentosum (XP) can be located on the eyelids, conjunctiva or cornea. Malignant melanoma of the conjunctiva is a rare tumor, and even more so in children. Only five cases associated with XP have been published since 1960. We report a sixth case occurring in a girl aged 14. Surgical treatment consisted of an orbital exenteration extended to the eyelids and the evolution is marked by a good healing of the orbital cavity without local recurrence after four months.
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ABSTRACT: Uveal melanoma is the most frequent intraocular cancer and the second most common form of melanoma. It metastasizes in half of the patients and the prognostic is poor. Although ultraviolet (UV) radiation is a proven risk factor for skin melanoma, the role of UV light in the etiology of uveal melanoma is still contradictory. We have compared epidemiological and genetic evidence of the potential role of UV radiation in uveal melanoma with data on cutaneous melanoma. Even though frequently mutated genes in skin melanomas (e.g. BRAF) differ from those found in uveal melanoma (i.e. GNAQ, GNA11), their mutation pattern bears strong similarities. Furthermore, we provide new results showing that RAC1, a gene recently found harboring UV-hallmark mutation in skin melanoma, is also mutated in uveal melanoma. This article aims to review the work done in the last decades in order to understand the etiology of uveal melanoma and discuss new avenues, which shed some light on the potential role of UV exposure in uveal melanoma. This article is protected by copyright. All rights reserved.Photochemistry and Photobiology 08/2013; 90(1). DOI:10.1111/php.12161 · 2.68 Impact Factor