A 52 year old man presents to clinic with multiple alarming complaints. He is a Hispanic immigrant and has not received medical care in the United States. His primary complaints are dysphagia with frequent regurgitation, chronic melena, myalgias, pruritus, progressive fatigue and dyspnea on exertion, and painful swelling of his fingers with occasional discoloration in his fingertips. Skin thickening in this patient extends to the shoulders and chest. This patient was diagnosed with diffuse cutaneous systemic sclerosis based on clinical findings and autoimmune serologies.
facial changes in scleroderma
Signs of Scleroderma | Stanford Medicine 25 | Stanford Medicine
When a person has scleroderma sclare-oh-dur-muh , the body makes too much collagen. This excess collagen, the substance that holds our body together, causes hardening and tightening. Most people have hardening and tightening on their skin. Joints, muscles, and even internal organs like the kidneys and lungs can harden and tighten. Where you have the hardening and tightening varies with the type of scleroderma you have.
Scleroderma skleros; hard, and derma; skin , is currently known as systemic sclerosis due to its progressive nature and widespread tissue involvement. It is a rare connective tissue disorder with a wide range of oral manifestations. Thickening of the skin is the hallmark of the disease.
Described as an autoimmune collagen vascular disease, the most striking feature of scleroderma may be a systemic vasculopathy. This vasculopathy includes characteristic noninflammatory macrovascular and microvascular changes with dramatic and possibly occlusive formation of a thickened neointima. Scleroderma vessels also have an unusual endothelial phenotype, with loss of normal markers including vascular endothelial VE -cadherin. These endothelial cells express type 1 interferon and regulator of G protein signaling 5 RGS5 , two molecules associated with vascular rarefaction. These genes may be important because tissue is hypoxic with high levels of vascular endothelial growth factor VEGF , especially early in the disease.