Research in genetics and the collaboration of various medical disciplines are responsible for the discovery of many new syndromes. The association of ocular and skin malformations is not astonishing when one remembers that the embryonic development of the eye and the skin are of ectodermal origin; both the eye and skin may reflect a variety of systemic disturbances occurring during their formation, or represent genetic disorders. An ocular and a dermatological feature may be the first indication of a possible disturbance on other organs. The reality that juveniles may frequently present simultaneous associations of eye and skin malformations is a phenomenon not widely known among physicians and reports in the recognition of syndromes with those manifestations are dispersed among various medical journals. The authors described the various syndromes with ocular and dermatologic findings that are of interest to the ophthalmologist.