Melanocytic Nevi in Turner Syndrome

Abstract

One morphologic feature of Turner syndrome is increased numbers of melanocytic nevi; however, little attention has been given to their characterization. The development of a melanoma in one of our patients with Turner syndrome prompted this study. We prospectively examined 10 patients with the disease, confirmed by karyotype. All patients underwent full body skin examination noting the number, size, distribution, and degree of clinical atypia of melanocytic nevi. Representative and unusual lesions were photographed. An average of 115 nevi were seen, with the majority measuring 1 to 5 mm. Most were located on the back and extremities. Clinical atypia was uncommon. Our patients had larger numbers of benign-appearing nevi than the general population. Large numbers of melanocytic nevi is a risk factor for melanoma, suggesting that these patients have an increase in one risk factor. Longitudinal studies are indicated to clarify this issue; nevertheless, we recommend periodic skin examinations and the regular use of sunscreens for individuals with Turner syndrome.

Nevi and Melanoma: Lessons from Turner’s Syndrome

“…It occurs in approximately 1 in every 5,000 female births [1]and has many characteristic clinical features. These include a marked increase in the number of acquired melanocytic nevi [2, 3, 4]although this was not observed in the case report. The median number in TS has been as high as 115 in one study [2], which compares to a range of 20–40 reported for the general population [5].…”

“…These include a marked increase in the number of acquired melanocytic nevi [2, 3, 4]although this was not observed in the case report. The median number in TS has been as high as 115 in one study [2], which compares to a range of 20–40 reported for the general population [5]. The association between TS and nevi has recently been highlighted in a report suggesting that the administration of human growth hormone, routinely administered to girls with TS to increase adult height, might accelerate the growth of nevi and therefore increase the risk of cutaneous melanoma (CM).…”

“…In one study the average size of the nevi was quite small (1–5 mm in diameter) and clinical atypia was uncommon [2]. In another series no increase was found in the number of large nevi [4]and, as observed in the general population, the number of nevi increased with age and was increased in individuals with fair skin.…”

The Genes and Genetics of Malignant Melanoma

“…This observation is also of interest as it suggests the presence of a factor involved in nevus development on the X chromosome. In one study, the median number of nevi in girls with Turner's syndrome was 115, 53 suggesting that the MM risk in these girls based on nevi number alone would be about tenfold that of the general population (where the median number of nevi is in the range of 20±40). 56 However, there is only one reported case in the literature 57 of cutaneous MM developing in a person with Turner's syndrome, and no cases were observed in a registry of 597 Danish TS females 58 with this condition.…”

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

“…Studies conflict with regard to the question whether TS is associated with and increased melanoma risk (167,168,395,396). Other skin conditions that have a greater prevalence include pilomatricomas (2.6%) (397, 398), vitiligo (2.7-6%) (399, 400) and halo nevi (18%) (399).…”