Risk Factors and Relationship of Cutaneous and Uveal Melanocytic Lesions in Monozygotic and Dizygotic Twin Pairs

• Published in: PloS one 2016-08, Vol.11 (8), p.e0160146-e0160146
• Main Authors: Csoma, Renáta Zsanett, Tóth-Molnár, Edit, Varga, Anita, Szabó, Hajnalka, Orvos, Hajnalka, Kemény, Lajos, Oláh, Judit
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Biology and Life Sciences; Child; Child, Preschool; Correlation; Correlation coefficient; Correlation coefficients; Dermatology; Dysplastic Nevus Syndrome - epidemiology; Dysplastic Nevus Syndrome - genetics; Environmental factors; Environmental impact; Epidemiology; Female; Humans; Infant; Iris; Lesions; Male; Medical prognosis; Medicine and Health Sciences; Melanoma; Melanoma - epidemiology; Melanoma - genetics; Nevus, Pigmented - epidemiology; Nevus, Pigmented - genetics; Ophthalmology; Risk analysis; Risk Factors; Skin; Skin cancer; Skin Neoplasms - epidemiology; Skin Neoplasms - genetics; Statistical analysis; Studies; Surveys; Twins; Twins, Dizygotic - genetics; Twins, Dizygotic - statistics & numerical data; Twins, Monozygotic - genetics; Twins, Monozygotic - statistics & numerical data; Uveal Neoplasms - epidemiology; Uveal Neoplasms - genetics; Young Adult
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0160146

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. 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. 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. 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.