BACKGROUND: The similar genetic background of a pair of twins, and the similar environmental
impacts to which they are exposed allow an exact and objective investigation of various
constitutional and environmental factors in naevus development. As far as we are aware,
this is the first published survey that simultaneously examines cutaneous and ocular
pigmented lesions in an appreciable sample of identical and non-identical twins. METHODS:
172 pairs of twins of Caucasian origin were included in this study. A whole-body skin
examination and a detailed ophthalmological examination were performed to determine
the density of melanocytic lesions. A standardized questionnaire was used to assess
the data relating to constitutional, sun exposure and other variables. RESULTS: A
notably high proportion of the subjects (36.78%) manifested one or more clinically
atypical melanocytic naevi (CAMNs), and approximately one-third (31.4%) of them at
least one benign uveal pigmented lesion (BUPL). The incidence of iris freckles (IFs),
iris naevi (INs) and choroidal naevi (CHNs) proved to be 25.35%, 5.98% and 3.52%,
respectively. The interclass correlation coefficients for common melanocytic naevi
(CMNs), CAMNs, and INs were 0.77, 0.76 and 0.86 in monozygotic twins, as compared
with 0.5, 0.27 and 0.25 in dizygotic twin pairs, respectively. A statistically significant
correlation was found between the prevalence of CAMNs and that of INs. CONCLUSIONS:
This significant correlation suggests the existence of a subgroup of Caucasian people
with an increased susceptibility to both cutaneous and ocular naevus formation. There
is accumulating evidence that, besides the presence of cutaneous atypical naevi, INs
can serve as a marker of a predisposed phenotype at risk of uveal melanoma. The correlation
between cutaneous and ocular pigmented lesions underlines the need for the adequate
ophthalmological screening of subjects with CAMNs and INs.
