J Korean Rheum Assoc.  2008 Sep;15(3):277-281. 10.4078/jkra.2008.15.3.277.

A Case of Systemic Scleroderma in Triple X Syndrome

• Lee SY

• KMID: 1270209
• DOI: http://doi.org/10.4078/jkra.2008.15.3.277

Abstract

Systemic scleroderma is a collagen-vascular disease of unknown etiology. Although the pathogenesis is poorly understood, disease progression involves the vasculature, the immune system and extracellular matrix deposition. systemic scleroderma occurs 3~8 times more frequently in women than men and pathogenesis of systemic scleroderma may be related to female X chromosome. but the role of X chromosome in autoimmunity has not been illustrated yet. Most recently reports, the disturbances in X chromosome and inactivation of X chromosome may be the cause of autoimmunity in abnormal sex chromosome syndrome. Also autoimmune diseases such as systemic scleroderma is increased in Turner's syndrome. the author had experienced a woman with systemic scleroderma who had been diagnosed to triple X syndrome due to infertility in the past. which was very rare case and not reported yet. So the author report a case of systemic scleroderma with triple X syndrome with literature review.

Keyword

Systemic scleroderma; Triple X syndrome

MeSH Terms

Female
Male
Humans

Figure

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  Fig. 1. The figure shows salt and pepper pigmentation on the neck skin.

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  Fig. 2. Blood karyotyping study shows 47 XXX and confirms the diagnosis of Triple X syndrome.

Reference

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