The dysplastic nevus syndrome was conceptualized in the late 1970s, an
d the subsequent proposal of a genetic relationship with ocular melano
ma has stimulated debate in the literature which remains unresolved. W
e present the case of a 60-year-old man with histologically proven spo
radic dysplasic nevus syndrome and a prior history of nine cutaneous m
elanomas, who developed a large, exophytic melanoma of the cornea and
limbal conjunctiva. Cytogenetic analysis of this melanoma revealed a c
lonal 1; 14 translocation. We believe this is the first reported case
to use cytogenetic techniques in the analysis of conjunctival melanoma
, either associated with dysplastic nevus syndrome or in isolation. We
review the clinical literature as well as the cytogenetic and molecul
ar genetic data related to the possible association of cutaneous melan
oma, conjunctival and uveal melanoma and the dysplastic nevus syndrome
.