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Scleroderma

Scleroderma (from the Greek sclero = hard, derma = skin) is a rare autoimmune disease characterized by thickening and hardening of the skin tissues due to excessive collagen production. The skin tissues due to excessive collagen production. The condition may affect only the skin or involve internal organs such as the lungs, heart, kidneys, and digestive system.

In Italy, approximately 25,000 cases are diagnosed, with a higher incidence among women aged 30 to 50 (accounting for 89% of patients). Due to its polymorphic nature, scleroderma has a significant impact on patients’ quality of life.

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What Is Scleroderma?

Scleroderma is a rare autoimmune disease in which the immune system triggers an abnormal response, producing excessive amounts of collagen. Collagen – a protein essential for tissue structure and elasticity – accumulates abnormally in the skin and, in systemic forms, in other organs and systems.

The role of collagen in the body

Collagen is found not only in the skin but also in:

  • Muscles and connective tissues.
  • Blood vessels.
  • Lungs.
  • Digestive system (esophagus, stomach, intestines).
  • Heart.
  • Kidneys.

This explains why scleroderma, although it often begins with skin manifestations, may affect vital organs and impair critical physiological functions.

What are the types of scleroderma?

Two main types of scleroderma can be identified:

Localized scleroderma

Affects only the skin and, in some cases, underlying muscles and connective tissues. It does not progress to systemic forms. It includes two variants:

  • Morphea: characterized by patches of hard, thickened skin, often on the hands, feet, and face, but it may extend to other areas. It is the most common form of localized scleroderma.
  • Linear scleroderma: typically begins in childhood and presents as bands or streaks of thickened skin along the limbs or face.

Systemic scleroderma (systemic sclerosis)

It involves the skin and, over time, one or more internal organs. It is divided into two main forms:

  • Limited cutaneous form: skin thickening restricted to the face, hands, and feet. Associated with vascular abnormalities and esophageal involvement. Prognosis is generally better, though pulmonary and cardiac complications may develop over time.
  • Diffuse cutaneous form: it develops and progresses more rapidly than the limited form. It typically begins in the fingers and spreads quickly, involving the skin, connective tissues, blood vessels, and often internal organs (heart, lungs, kidneys). It is the most severe form.

Severity of scleroderma

Scleroderma can present with varying severity levels:

  • Mild forms: non-life-threatening skin changes with preserved function.
  • Moderate forms: involvement of one or more internal organs with maintained functional compensation.
  • Severe forms: impairment of vital organs (lungs, heart, kidneys) with potentially life-threatening consequences if not properly treated and monitored.

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What Are The Causes And Risk Factors Of Scleroderma?

Causes of scleroderma

The exact causes of scleroderma are not yet fully understood. The condition results from a complex interaction of genetic, environmental, and immunological factors.

  • Genetic factors: epidemiological studies suggest a genetic component, as the disease may occur in multiple members of the same family. However, no specific genetic test exists, and many patients have no family history.
  • Environmental factors: some studies suggest exposure to silica (used in industrial settings, fertilizers, and material processing) may increase risk. However, most patients report no known exposure, indicating other contributing factors.

Risk factors

Key risk factors include:

  • Sex: women are affected about four times more frequently than men.
  • Age: diagnosis is most common between the ages of 30 and 50, although it can occur at any age.
  • Ethnicity: African Americans and Native Americans have a higher risk and tend to develop more severe forms.
  • Family history: having first-degree relatives with the disease increases the likelihood of development.

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What Are the Symptoms of Scleroderma?

Symptoms vary widely depending on whether the disease is localized or systemic and on its rate of progression.

Skin Symptoms (common to both forms)

  • Skin thickening and hardening, especially on the hands, feet, face, and fingers.
  • Area of waxy skin with reduced elasticity.
  • Skin patches with altered pigmentation (hyperpigmentation or hypopigmentation).
  • Skin ulcers and telangiectasias (small red vascular spots).
  • Joint stiffness, with difficulty fully extending the fingers and reduced hand mobility.
  • Joint pain and muscle weakness.
  • Hair loss and reduced sweating in affected areas.

Systemic Symptoms (Systemic Scleroderma)

Systemic scleroderma may cause symptoms related to the involvement of internal organs:

  • Gastrointestinal system.
    • Heartburn (pyrosis) and gastroesophageal reflux.
    • Digestive difficulties (dyspepsia).
    • Sensation of food bolus obstruction during swallowing (dysphagia).
    • Abdominal distension, diarrhea, or constipation.
    • Gastroparesis (delayed gastric emptying).
  • Cardiovascular and respiratory system.
    • Raynaud’s phenomenon: excessive vasoconstriction in response to cold or stress, leading to numbness and characteristic color changes in the fingers (white, then blue, then red). It occurs in approximately 90% of patients with systemic disease and is often the initial manifestation.
    • Dyspnea (shortness of breath) due to pulmonary fibrosis.
    • Pulmonary hypertension.
    • Cardiac arrhythmias.
    • Inflammation of the heart or pericardium.
  • Urogenital system.
    • Renal impairment due to reduced perfusion, potentially life-threatening if not treated early.
    • Sexual dysfunction (erectile dysfunction in men, pain during sexual intercourse in women).
  • Other systemic manifestations.
    • Secondary Sjögren’s syndrome, with marked dryness of the eyes and mouth.
    • Fatigue.

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How Do You Diagnose Scleroderma?

The diagnosis of scleroderma is based on a thorough multidisciplinary clinical evaluation, as the disease may present with heterogeneous manifestations and involve multiple organ systems.

The progression of symptoms and the potential involvement of internal organs necessitate early diagnosis and continuous monitoring. Many patients develop severe complications in the absence of evident early symptoms, making a comprehensive medical assessment essential even in the presence of mild cutaneous manifestations.

A timely and accurate diagnosis enables:

  • Early initiation of treatment before the onset of serious complications.
  • Monitoring of disease progression and organ involvement.
  • Implementation of targeted preventive strategies to preserve organ function.
  • Significant improvement in prognosis and quality of life.

Clinical evaluation

The diagnostic process includes:

  • Detailed medical history: comprehensive collection of clinical history, with particular attention to symptoms, their progression over time, and potential environmental or occupational exposures.
  • General physical examination: careful inspection of the skin, assessment of joint mobility, auscultation of the heart and lungs, and measurement of blood pressure.
  • Dermatological evaluation: identification of skin features characteristic of scleroderma.

Diagnostic tests

A range of investigations supports the diagnosis and allows assessment of internal organ involvement:

  • Blood tests – Autoantibody testing: anti-centromere antibodies (ACA), anti-topoisomerase I (anti-Scl-70), anti–RNA polymerase III antibodies, and other scleroderma-associated autoantibodies. These markers are specific and useful for both diagnosis and prognosis.
  • Inflammatory markers: erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor.
  • Renal function assessment: serum creatinine and creatinine clearance.

Imaging and functional tests

  • Pulmonary function tests (PFTs): assess lung capacity and are essential for the early detection of pulmonary fibrosis.
  • High-resolution computed tomography (HRCT) of the chest: identifies even early pulmonary changes, including fibrosis and reticular patterns.
  • Esophagogram: contrast radiographic study used to evaluate esophageal motility and transit, often impaired in scleroderma.
  • Gastrointestinal endoscopy: direct visualization of the upper GI tract to detect erosions, ulcers, or intestinal metaplasia.
  • Electrocardiogram (ECG): detects potential arrhythmias or abnormalities in cardiac rhythm.
  • Echocardiogram: evaluates cardiac function, blood flow, and pulmonary arterial pressure (important for ruling out pulmonary hypertension).
  • Complete blood count and urinalysis: monitor renal function and detect proteinuria (a marker of kidney damage).

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How Do You Treat Scleroderma?

The treatment of scleroderma is individualized and based on:

  • Type and severity of the disease (localized vs. systemic).
  • Patient-specific clinical characteristics.
  • Presence and extent of internal organ involvement.

The therapeutic approach combines pharmacological treatment, functional support, and lifestyle modifications.

Pharmacological therapy

  • Immunosuppressive drugs: indicated in moderately severe forms of systemic sclerosis, particularly in cases with pulmonary involvement. They reduce abnormal immune system activity and slow the progression of fibrosis.
  • Vasodilators: used in the management of Raynaud’s phenomenon and pulmonary hypertension.
  • Gastroprotective medications: for the control of gastroesophageal reflux and heartburn.
  • Antihypertensive medications: used to control blood pressure, particularly crucial in cases of renal or pulmonary involvement.
  • Anti-inflammatory and analgesic medications: to relieve joint pain and inflammation.

Functional and rehabilitation support

  • Physiotherapy and occupational therapy.
    • Targeted exercises to preserve joint mobility and muscle strength.
    • Stretching techniques and passive mobilization.
    • Adaptation of the home environment to maintain functional independence.
  • Regular physical activity. Important for:
    • Maintaining flexibility and muscle strength.
    • Improving blood circulation.
    • Preserving cardiopulmonary capacity.

Lifestyle Modifications

  • Protection from cold exposure: protecting the hands, feet, and head is essential to prevent vasospastic episodes (Raynaud’s phenomenon).
  • Smoking cessation: smoking significantly worsens vascular and pulmonary symptoms.
  • Adapted diet: small, frequent meals in the presence of gastrointestinal symptoms; adequate intake of nutrient-rich foods to prevent malnutrition.
  • Stress management: relaxation techniques, meditation, and psychological support.
  • Routine vaccinations: particularly important in patients receiving immunosuppressive therapy, to reduce the risk of respiratory infections.

Prognosis and quality of life

In most cases, individuals with scleroderma have a life expectancy comparable to that of the general population, especially in localized or mild systemic forms.

However, in severe diffuse systemic forms – without early diagnosis, timely treatment, and appropriate monitoring – serious, potentially life-threatening complications may develop (including pulmonary, renal, and cardiac failure).

Early diagnosis, specialized treatment, and multidisciplinary care are essential to effectively manage the disease and preserve quality of life.

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Reviewed June 2026.