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  • Title: Turner's syndrome in dermatology.
    Author: Lowenstein EJ, Kim KH, Glick SA.
    Journal: J Am Acad Dermatol; 2004 May; 50(5):767-76. PubMed ID: 15097963.
    Abstract:
    Turner's syndrome (TS) is a common genetic disorder of girls and women, for which the defining clinical triad is short stature, impaired sexual development, and infertility. Although classically known as monosomy X, genetic heterogeneity is frequent in TS, with mosaicism conferring a survival advantage. Several genetic loci have been implicated in TS including the short stature homeobox gene. TS effects many organs, with cutaneous stigmata providing critical clues for early detection of TS. The presence of lymphedema and its cutaneous sequelae are predictive of other systemic disorders, such as cardiac disease. Although an increased number of benign nevi have been reported in TS, the decreased melanoma rate in this population suggests some protective factor is active. Keloids were thought to be prevalent in TS, but recent data suggest otherwise. Autoimmune diseases are common in TS, with a possible increased prevalence of alopecia areata and vitiligo. The following review discusses new insights into the genetics and pathogenesis of this complex disorder, summarizes the major systemic effects, and reviews skin manifestations of TS and their implications.
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