The Dysplastic Nevus Syndrome: A Pedigree with Primary Malignant Melanomas of the Choroid and Skin

Intraocular and cutaneous melanomas developed in a family with features of the dysplastic nevus syndrome. (The proband had a choroidal melanoma, his son had a cutaneous melanoma, and his grandchildren have mildly atypical melanocytic lesions clinically.) The syndrome is characterized by clinically and histologically atypical nevi, which may serve as cutaneous markers to identify persons at high risk for melanomas, both of the skin and the eye. Although it has been proposed recently that the association of intraocular melanoma with cutaneous melanoma and the dysplastic nevus syndrome may be coincidental, statistical analysis suggests that the occurrence of the two forms of melanoma in the same patient and in different members of the same family is not explained by chance alone. Therefore, until the relationship between intraocular and cutaneous melanomas is more fully elucidated, recognition of the dysplastic nevus syndrome is important, and the skin of patients suspected of having intraocular melanomas should be examined routinely for evidence of atypical melanocytic lesions.