Rheumatology Conditions
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      Scleroderma

      Brief Overview: The term scleroderma is used to describe the presence of thickened, hardened skin (from the Greek "scleros"). Scleroderma is the hallmark feature of systemic sclerosis (SSc). Systemic sclerosis (SSc) is a chronic multisystem disease with variable clinical presentations and disease course, characterized by autoimmunity, widespread vascular dysfunction, and variable fibrosis of the skin and internal organs. Most patients with SSc can be classified based on the extent of skin involvement and the accompanying pattern of internal organ involvement, as well as the presence of overlapping features with other systemic rheumatic diseases. The major subsets of SSc include limited cutaneous SSc (lcSSc), diffuse cutaneous SSc (dcSSc), SSc sine scleroderma, and SSc overlap syndrome. SSc is a heterogeneous disease, which is reflected by a broad range of organ involvement, disease progression and severity, and outcomes

      Prevalence: It’s estimated that about 300,000 Americans have scleroderma. About one third of those people have the systemic form of scleroderma. Since scleroderma presents with symptoms similar to other autoimmune diseases, diagnosis can be difficult. There may be many misdiagnosed or undiagnosed cases.

      Etiology: The exact cause or causes of scleroderma are still unknown, but scientists and medical researchers are working hard to make those determinations. It is known that scleroderma involves overproduction of collagen. Most individuals do not have any relatives with scleroderma and their children do not get scleroderma. Research indicates that there is a susceptibility gene, which raises the likelihood of getting scleroderma, but the gene alone does not cause the disease.

      Risk Factors:

      • Localized scleroderma is more common in children, whereas systemic scleroderma is more common in adults.
      • Overall, females with scleroderma outnumber males about 4-to-1.
      • Other factors such as race and ethnic background may determine the risk of getting scleroderma, the age of onset, and the pattern or severity of internal organ involvement. The reasons for this are not clear.
      • Although scleroderma is not directly inherited, some scientists feel there is a slight predisposition to it in families with a history of rheumatic diseases.
      • Scleroderma can develop in every age group from infants to the elderly, but its onset is most frequent between the ages of 25 to 55. 

      Commonly Associated Conditions:

      • There are many commonly associated conditions, as SSc is a chronic multi-system disease. Some of these include, but are not limited to:
        • Interstitial lung disease (ILD)
        • Pulmonary vascular disease, leading to pulmonary arterial hypertension
        • Raynaud’s phenomenon
        • Arthritis, tendinitis, joint contractures
        • GI involvement
        • Cardiac involvement, cardiac disease
        • Kidney disease/damage
        • Neuromuscular involvement – muscle atrophy, weakness, and myopathy
        • GU involvement – erectile dysfunction, sexual dysfunction
        • Hypertension

      Common Medications: Medication will vary depending on individual patient symptoms and organ involvement. Some possible medications may include: immunosuppressive therapy (ex: MTX, MMF, Cyclophosphamide), antifibrotic medications, immunomodulatory agents (ex: IVIG, rituximab, tocilizumab). Each patient’s treatment plan will vary and be tailored to their specific needs, organ involvement, and symptoms. The list of medications is very wide-ranging due to this.

      Common Labs, Imaging, and Tests:

      • Lab tests: CBC with differential, Serum creatinine, Creatine kinase (CK), Urinalysis with urine sediment, ANA, anticentromere antibody (ACA), anti-RNA polymerase III antibody, antibodies to Th/To, anti-topoisomerase I (anti-Scl-70) antibody, anti-deoxyribonucleic acid (DNA) topoisomerase I (Scl-70) antibodies, Rheumatoid factor (RF), Anti-CCP, SLE-associated antibodies, antibodies associated with overlap connective tissue disease (like RNP antibodies)
      • Nailfold capillaroscopy
      • Pulmonary function testing (PFT)
      • High-resolution CT of the chest
      • Doppler echocardiography
      • Additional studies may be indicated based on patient symptoms in order to evaluate for additional organ involvement

      Common Symptoms, including, but not limited to:

      • Fatigue
      • Pain – skin-related discomfort, joint pain, myalgia, Raynaud’s phenomenon, and ischemic digital ulcers
      • Skin thickening – fingers, hands, and face are generally the earliest areas of the body involved
      • Puffy/swollen fingers
      • Other skin manifestations can include: pruritus and edema, skin darkening, skin hyperpigmentation or depigmentation, loss of appendicular hair, dry skin, capillary changes at the nailfold, digital tip ulcers and/or pitting at the fingertips, telangiectasia, degos-like lesions, calcinosis cutis
      • Raynaud’s phenomenon – commonly the earliest disease manifestation
      • Hand stiffness and/or painful distal finger ulcers
      • Symptoms of gastroesophageal reflux
      • Arthritis, tendinitis, joint contractures
      • Dysphagia, choking, heartburn, hoarseness, cough after swallowing, bloating, constipation/diarrhea, fecal incontinence, pseudo-obstruction and bacterial small bowel overgrowth with malabsorption
      • Myopathy and neuropathies
      • Erectile dysfunction in males and sexual dysfunction in females
      • Breathlessness on exertion, which can progress to dyspnea at rest and nonproductive cough
      • Diminished exercise tolerance

      Common Treatments:

      • The etiology and pathogenesis of SSc are poorly understood. As a result, treatment of these conditions is difficult, incomplete, and not curative.
      • The aim of immunosuppressive therapy is to reduce progression or severity of systemic sclerosis (SSc) complications. Treatment should be started as early as possible in the disease course to slow disease progression before further damage occurs. 
      • Due to the wide spectrum of disease manifestations and organ involvement, the management of the disease is tailored to the individual patient, taking into account the disease subset and type of internal organ involvement. In general, patients with SSc are treated with therapy to reduce symptoms and to impact organ-based disease.

      Physical Findings:

      • Puffy swollen fingers and/or nonpitting edema of the hands
      • Skin thickening, either diffuse or limited to the hands, feet, face, and forearms
      • Perioral skin tightening with decreased oral aperture (reduced opening of the mouth)
      • Tendon friction rubs, which can be felt as coarse crepitus over joints or areas with adjacent joint involvement. The most common sites of involvement are the tendons of the fingers and wrists, elbows, knees, and ankles
      • Digital tip pitting with loss of fingertip tissue and superficial digital ulcerations under or close to the nailbed. Ulcerations over the distal or proximal interphalangeal joints are usually due to trauma as a complication of avascular or thinned skin
      • Abnormal nailfold capillaroscopy with scleroderma pattern
      • Calcinosis cutis (of the hands, elbows, and knees), mucocutaneous telangiectasias, and/or cutaneous hyperpigmentation
      • Sclerodactyly (tight, shiny skin on fingers)

      Potential Complications and Contraindications, including, but not limited to:

      • Complications related to multi-system/multi-organ involvement including, but not limited to: cardiac, genitourinary, renal, pulmonary, musculoskeletal, gastrointestinal, neuromuscular
      • Increased cancer risk – lung cancer appears to be the most significant cancer associated with SSc
      • Increased risk of venous thromboembolism (VTE)
      • Sjogren syndrome
      • Renal crisis which can lead to kidney failure if not treated promptly
      • Pulmonary fibrosis
      • Heart failure
      • Pericarditis
      • Irregular heart rhythm
      • Vascular injury/disease
      • Glucocorticoids have been identified as a risk factor for scleroderma renal crisis. Because of this association, it is suggested to limit the use of glucocorticoids to short courses using low doses (If indicated, please follow the advice and treatment plan of your healthcare provider).

      General Health and Lifestyle Guidance:

      • Protect extremities from cold (Raynaud’s care)
      • Gentle skin care and moisturizers
      • Stretching exercises and physical therapy - discuss options that are safe for you with your healthcare provider
      • Smoking cessation (especially important for vascular and lung health)
      • Balanced diet with attention to GI symptoms – discuss any specific diet modifications/recommendations with your healthcare provider
      • Routine health monitoring and screenings

      Suggested Questions to Ask Patients:

      • Have you experienced any skin tightening or color changes in your fingers or toes?
      • Do you have trouble swallowing or frequent heartburn?
      • Are you short of breath with exertion or when lying flat?
      • Do you have dry eyes or mouth?
      • Have you noticed any changes in how your joints move or feel?

      Suggested Talking Points:

      • Scleroderma can affect many parts of the body—it's important to discuss monitoring your lungs, heart, kidneys, and skin with your healthcare provider
      • Managing symptoms early can typically help improve your quality of life and slow progression.
      • Discuss ways to protect your fingers/toes from cold and injury if you have Raynaud’s
      • Regular follow-ups and tests can help your healthcare providers catch complications early
      • Your treatment plan should be tailored to your individual needs and symptoms and may be managed by multiple specialists/healthcare providers
      • Make sure to report any and all symptoms to your healthcare providers

       

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