Stiff Skin Syndrome: Clinical Exploration, Pathophysiology and Therapeutic Advances in a Rare Connective Tissue Disease
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Abstract
Stiff Skin Syndrome, also known as "diffuse stiff skin syndrome" or "Scleroderma-like syndrome with focal contracture", is a rare and complex clinical entity in the spectrum of connective tissue diseases. This disorder is characterized by progressive and diffuse infiltration of connective tissue into the skin and underlying tissues, resulting in extreme skin stiffness and limited joint mobility. In addition to its cutaneous and joint manifestations, stiff skin syndrome can affect multiple internal organs, making it a clinical entity of great multidisciplinary relevance.
This article aims to provide a comprehensive review of stiff skin syndrome, addressing its epidemiology, clinical manifestations, etiopathogenesis, differential diagnosis, and current therapeutic options. Recent research that has shed light on the underlying molecular mechanisms and emerging therapies that are being developed to improve the quality of life of patients affected by this disease are highlighted. In addition, the importance of a comprehensive evaluation and an interdisciplinary therapeutic approach to optimize the clinical management of individuals with rigid skin syndrome is highlighted.
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