Scleroderma

Scleroderma is a chronic, autoimmune rheumatic disease that causes inflammation and hardening of connective tissue. It is characterized by blood vessel abnormalities, the presence of autoantibodies, and degeneration and fibrosis of the skin, joints, and organs.

Scleroderma types are classified based on the affected areas:

• Localized scleroderma: affects only the skin.
• Linear scleroderma: the most common subtype in pediatric patients. It affects the dermis, subcutaneous tissue, and sometimes the muscle or bone underneath. It appears as a unilateral linear thickening.
• Morphea: affects only the superficial layers of the skin or, in some cases, the upper layers of the subcutaneous tissue.
• Generalized morphea: affects a larger body surface area.
• Coup de Sabre: a form of linear scleroderma that appears on the face or scalp.
• Systemic scleroderma or systemic sclerosis: also affects tissues, blood vessels, and internal organs. It is the most severe type of scleroderma. Depending on skin involvement, it is further classified into:
• Limited systemic sclerosis or CREST syndrome: affects only certain skin areas such as the face, hands, feet, and forearms. It progresses slowly, and internal organ involvement is absent or delayed.
• Diffuse systemic sclerosis: causes skin lesions starting at the metacarpophalangeal and metatarsophalangeal joints, spreading to the entire limb within a year. It also affects the face, trunk, joints, and internal organs. It progresses rapidly.
• Systemic sclerosis without scleroderma: does not present skin fibrosis. It is very rare.

Scleroderma is considered a rare disease of unknown origin, with highly variable manifestations in each individual. Among systemic autoimmune diseases, it has the highest mortality rate, with an average survival of approximately ten years.

Symptoms

Scleroderma symptoms vary throughout its progression depending on the affected organs:

General symptoms (common in most patients):

• Fatigue and lack of energy.
• Joint pain, with or without inflammation.
• Muscle pain, with or without loss of strength.
• Swelling of the hands.
• Weight loss.

Skin symptoms:

• Hardening and tightness of the skin, beginning in the fingers, toes, and face.
• Changes in pigmentation: skin may lighten or darken and appear shiny due to rigidity.
• Small red spots on the face and hands.
• Development of spider veins.
• Calcium deposits under the skin.
• Raynaud’s phenomenon: fingers become numb, painful, and turn pale or bluish due to excessive contraction of blood vessels in response to cold or stress.

Lung involvement symptoms:

• Diffuse interstitial lung disease.
• Pulmonary hypertension.

Digestive system symptoms:

• Decreased mouth opening and lip size.
• Difficulty swallowing.
• Acid reflux or heartburn.
• Constipation or diarrhea.
• Malabsorption, leading to weight loss.
• Recurrent intestinal infections.

Cardiac involvement symptoms:

• Tachycardia or arrhythmias.
• Cardiac chamber dysfunction.

Kidney involvement symptoms:

• Hypertension, blood and/or protein in the urine.
• Kidney failure.

Joint involvement symptoms:

• Pain.
• Stiffness or contractures.

Causes

Scleroderma results from excessive production and accumulation of collagen, a fibrous protein that forms connective tissue, due to an abnormal immune system response to injury. This excess collagen forms thick, rigid scar tissue (fibrosis), leading to symptoms. The exact cause of this process is unknown, but several factors are believed to contribute:

• Genetic predisposition.
• Immune system abnormalities.
• Environmental agents, such as chemicals or germs.

Risk Factors

The following factors may increase the risk of developing scleroderma:

• Age: Typically appears between 20 and 50 years old.
• Sex: Four times more common in women.
• Family history.
• Presence of other autoimmune conditions.
• Exposure to toxic substances.

Complications

The progression of scleroderma is highly unpredictable due to the wide variety of symptoms and affected areas. Even in its milder stages, tissue stiffness significantly reduces the patient’s quality of life. In some cases, systemic sclerosis progresses rapidly, and internal organ damage becomes fatal, mainly due to fibrosis, pulmonary hypertension, or kidney failure. Other common complications of scleroderma include:

• Tissue death in the fingertips.
• Changes in facial appearance, such as reduced mouth opening.
• Heart failure.
• Limited joint mobility and flexibility.

Prevention

Since scleroderma is an autoimmune disease, it cannot be prevented, but its symptoms can be managed. Some measures to slow its progression include:

• Proper protection from cold to reduce Raynaud’s phenomenon.
• Avoiding smoking, as tobacco worsens Raynaud’s symptoms.
• Hydrating the skin, as hardening is accompanied by severe dryness.
• Exercising affected areas to prevent muscle atrophy.
• Regular blood pressure monitoring, as hypertension may appear suddenly.

What doctor treats scleroderma?

Scleroderma is diagnosed and treated by rheumatologists and pediatric rheumatologists.