Systemic scleroderma

A chronic connective tissue disease

Left Arm Scleroderma Patient

Fibroblasts

Endoscopic image of peptic stricture, or narrowing of the esophagus near the junction with the stomach due to chronic gastroesophageal reflux. This is the most common cause of dysphagia, or difficulty swallowing, in scleroderma.

Micrograph showing thrombotic microangiopathy, the histomorphologic finding seen in scleroderma renal crisis. Kidney biopsy. PAS stain.

Clinical appearance of acrosclerotic piece-meal necrosis of the thumb in a patient with systemic sclerosis.

Systemic scleroderma, also known as systemic sclerosis, is a chronic autoimmune disease characterized by fibrosis (thickening and hardening) of the skin and internal organs. It is a complex condition that affects the connective tissue and can lead to significant morbidity and mortality.

Pathophysiology

Systemic scleroderma is primarily characterized by excessive collagen deposition in the skin and other organs. The exact cause of the disease is unknown, but it is believed to involve a combination of genetic, environmental, and immunological factors. The disease process involves autoimmunity, vascular dysfunction, and fibrosis.

Autoimmunity

In systemic scleroderma, the immune system mistakenly attacks the body's own tissues, leading to inflammation and fibrosis. Autoantibodies such as anti-centromere and anti-Scl-70 are often present in patients and can be used as markers for diagnosis.

Vascular Dysfunction

Vascular abnormalities are a hallmark of systemic scleroderma. Patients often experience Raynaud's phenomenon, which is characterized by episodic vasospasm of the fingers and toes. Over time, persistent vascular damage can lead to digital ulcers and pulmonary arterial hypertension.

Fibrosis

Fibrosis in systemic scleroderma results from the overproduction of collagen by fibroblasts. This leads to thickening and hardening of the skin and can affect internal organs such as the lungs, heart, kidneys, and gastrointestinal tract.

Clinical Features

The clinical presentation of systemic scleroderma is highly variable and can range from mild skin involvement to severe multi-organ disease.

Skin Involvement

The skin changes in systemic scleroderma typically begin with edema and progress to sclerosis. The skin becomes tight, shiny, and may restrict movement. Telangiectasia and calcinosis can also occur.

Musculoskeletal System

Patients may experience joint pain, stiffness, and muscle weakness. Arthralgia and myopathy are common symptoms.

Pulmonary Involvement

Lung involvement is a major cause of morbidity and mortality in systemic scleroderma. Interstitial lung disease and pulmonary arterial hypertension are common complications.

Gastrointestinal Tract

The gastrointestinal tract can be affected at any level, leading to symptoms such as dysphagia, gastroesophageal reflux disease, and malabsorption.

Renal Involvement

Renal crisis, characterized by sudden onset of hypertension and renal failure, is a serious complication of systemic scleroderma.

Diagnosis

Diagnosis of systemic scleroderma is based on clinical features, laboratory tests, and imaging studies. The presence of specific autoantibodies can aid in diagnosis. Skin biopsy may be performed to confirm the diagnosis.

Treatment

There is no cure for systemic scleroderma, but treatment focuses on managing symptoms and preventing complications. Immunosuppressive therapy, vasodilators, and antifibrotic agents are commonly used. Physical therapy and occupational therapy can help maintain mobility and function.

Prognosis

The prognosis of systemic scleroderma varies depending on the extent of organ involvement and the presence of complications. Early diagnosis and treatment can improve outcomes.

Related pages

• Autoimmune disease
• Connective tissue disease
• Raynaud's phenomenon
• Pulmonary arterial hypertension

Classification	ICD-11: 4A42 ICD-10: M34 ICD-9-CM: 710.1 OMIM: 181750 MeSH: D012595 DiseasesDB: 12845
External resources	MedlinePlus: 000429 eMedicine: derm/677 ped/2197