Abstract

COLIA, Ripalta et al. Systemic sclerosis in a patient with Turner syndrome: A case report and a review of associated autoimmune diseases. Rev.Colomb.Reumatol. [online]. 2022, vol.29, n.4, pp.325-330.  Epub Aug 14, 2023. ISSN 0121-8123.  https://doi.org/10.1016/j.rcreu.2021.01.001.

Turner's syndrome (TS) is one of the most common sex chromosome disorders caused by numeric or structural abnormalities of the X chromosome. A case of TS and Systemic Sclerosis (SSc) is reported, along with a summary of all associated TS/autoimmune diseases described in English literature from 1948 to 2020, using a search in MEDLINE (Pubmed). A 32-year-old woman affected by TS was seen due to inflammatory arthralgia in small joints and dysphagia, as well as a two-year history of Raynaud's phenomenon and puffy hands. Biohumoural laboratory tests and severity scales revealed changes that allowed us to diagnose SSc. This case report emphasises the role played by sex hormones and chromosomal abnormalities in the pathogenesis of autoimmune disorders, and to our knowledge, this is the only case described in literature of a TS patient who developed SSc.

Keywords : Turner's syndrome; Rheumatic diseases; Systemic sclerosis.

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