The dermatological spectrum of Turner syndrome

Abstract

AbstractTurner syndrome, characterized by monosomy of X chromosome, has a peculiar phenotype, including short stature, sexual infantilism, cardiovascular, renal, skeletal and skin abnormalities (in particular melanocytic naevi and skin appendage abnormalities). Fifty‐four patients affected by Turner syndrome were investigated. The skin and adnexal changes of Turner syndrome patients were analysed and their frequency was correlated with two karyotype groups (45, X and mosaicism group). A wide spectrum of skin findings was observed in Turner syndrome; in particular melanocytic naevi and pterygium colli were the most frequent findings. Pterygium colli was more frequent in patients with X monosomy than in those with other karyotypes (P < 0.05). The frequency of congenital/congenital‐naevus‐like naevi (CN/CNLN) and acquired melanocytic naevi (AN) (81.6%) was higher in Turner syndrome subjects, independently of their karyotype, than in the general Caucasian population. However, there was an unexpectedly high frequency of ichthyotic changes, café‐au‐lait spots and halo naevi. Hypertrichosis, nail changes and keloid formation were also seen. No significant correlation was found between these dermatological findings and the two karyotype groups considered.Although there are no reports on the occurrence of melanoma in Turner syndrome, given the high prevalence of both small congenital and acquired naevi, these patients should also be considered for melanoma prevention.