Scleroderma, systemic

Scleroderma, Systemic Scleroderma, systemic, also known as systemic sclerosis, is a chronic connective tissue disease generally classified as one of the autoimmune rheumatic diseases. It is characterized by changes in the skin, blood vessels, muscles, and internal organs. The term "scleroderma" is derived from the Greek words "sclero" meaning hard, and "derma" meaning skin. Hardening of the skin is one of the most visible manifestations of the disease.

Pathophysiology

Systemic sclerosis involves the overproduction and accumulation of collagen in the body's tissues. This leads to fibrosis, or thickening and scarring, of the skin and internal organs. The exact cause of this overproduction is unknown, but it is believed to involve a combination of genetic, environmental, and immune system factors.

Immune System Involvement

The immune system plays a crucial role in the development of systemic sclerosis. Abnormal immune responses lead to inflammation and the activation of fibroblasts, which are cells that produce collagen. This results in excessive collagen deposition.

Genetic Factors

While the exact genetic factors are not fully understood, certain genetic markers have been associated with an increased risk of developing systemic sclerosis. These include specific human leukocyte antigen (HLA) types and other genetic polymorphisms.

Clinical Features

Systemic sclerosis can affect various parts of the body, leading to a wide range of symptoms.

Skin

The skin involvement in systemic sclerosis is characterized by thickening and hardening. This can lead to a shiny appearance and reduced mobility of the affected areas. Skin changes often start in the fingers and hands, a condition known as sclerodactyly.

Raynaud's Phenomenon

Raynaud's phenomenon is often one of the first symptoms of systemic sclerosis. It involves episodes of reduced blood flow to the fingers and toes, causing them to turn white or blue in response to cold or stress.

Internal Organs

Systemic sclerosis can affect internal organs, including the lungs, heart, kidneys, and gastrointestinal tract. Pulmonary involvement can lead to pulmonary hypertension and interstitial lung disease, which are significant causes of morbidity and mortality.

Diagnosis

The diagnosis of systemic sclerosis is based on clinical features, laboratory tests, and sometimes skin biopsy. Autoantibodies such as anti-centromere and anti-Scl-70 (anti-topoisomerase I) are often present and can aid in diagnosis.

Treatment

There is currently no cure for systemic sclerosis, but treatment focuses on managing symptoms and preventing complications. This may include medications to suppress the immune system, manage blood pressure, and treat specific organ involvement.

Prognosis

The prognosis of systemic sclerosis varies widely depending on the extent and severity of organ involvement. Early diagnosis and treatment are crucial in improving outcomes.

See Also

• Autoimmune diseases
• Connective tissue diseases
• Raynaud's phenomenon

External Links

• Scleroderma Foundation
• National Institute of Arthritis and Musculoskeletal and Skin Diseases

NIH genetic and rare disease info

• NIH info on Scleroderma, systemic

Scleroderma, systemic is a rare disease.