1.2.2 Systemic scleroderma (SSc)
Grading & Level of Importance: C
Progressive Systemic Sclerosis.
Incidence varies between 0.1-4.3/100000; F:M = 4:1.
Chronic progressive multi-systemic disease involving skin, vessels and internal organs (lung, heart, gastrointestinal tract, kidney).
Aetiology & Pathogenesis
Multi-factorial: immunogenetic predisposition (HLA association), disturbed vascular regulation, humoral & cellular immune phenomena, altered collagen synthesis. Some chemical triggers identified (polyvinyl chloride, organic solvents, epoxy resins, silica).
Signs & Symptoms
- Hands: sclerodactyly, painful fingertip ulcers, fingers initially puffy, later atrophic with distal thinning
- Face: microstomia, perioral radial folds (purse string mouth), telangiectases
- Entire skin: increasing thickness
- Vessels: Raynaud's syndrome, often presenting feature
- Gastrointestinal tract: sclerosis of frenulum of tongue, disturbed swallowing, constipation, diarrhea
- Lungs: pulmonary fibrosis, pulmonal artery hypertension (PAH)
- Kidneys: proteinuria, hematuria, renal crisis due to nephrosclerosis
- Heart: myocardial fibrosis, right heart failure secondary to PAH
- Liver: primary biliary cirrhosis (possible)
- Joints: pain, swelling, arthralgias, arthritis, dermatogenic contractures
- Bones: osteolysis, osteomyelitis possible due to digital ulcerations
- Muscles: muscle weakness from myositis.
- Limited SSc (43%): Raynaud's phenomenon precedes skin changes by years. Limited cutaneous sclerosis distal to knees and elbows, involvement of the face. Esophageal disease, telangiectases, increased risk of developing PAH. Anti-centromere antibodies usually positive.
- Diffuse SSc (32%): Raynaud's phenomenon usually appears shortly before (
- Overlap syndrome (10%): Patients simultaneously show typical signs of SSC and other rheumatologic diseases.
- Others (undifferentiated forms, sclerosis sine scleroderma).
Laboratory & other workups
Immune serology: antinuclear antibodies (ANAs)/extractable nuclear antibodies (ENAs), anti-centromere antibodies (acral type), anti-Scl70 antibodies (diffuse type). Nail fold capillary microscopy (giant capillaries). Depending on clinical pattern, organ-specific studies. CAVE: Clinically silent pulmonary or renal involvement.
Early lesions: dense superficial and deep perivascular and periadnexal lymphocytic infiltrate.
Late lesions: increased collagen (sclerosis) with loss of adnexal structures (alopecia, decreased sweating).
Chronic and progressive.
Contractures, trophic ulcers, esophageal stenosis, Barrett eosophagus, pulmonary fibrosis (pulmonary hypertension), renal failure (renal hypertension, renal crisis), cardiac failure, cardiac rhythm disorders, right heart overload.
Clinical features, histology, immune serology.
- Provocation testing for Raynaud's phenomenon: immerse hands in ice water for 10-20 minutes
- Capillary microscopy: early stage: ectasia of capillaries; active stage: mega-capillaries, hemorrhages; late stage: rarefaction and tufting of capillaries
In case of respiratory problems:
- Pulmonary function test, high-resolution CT (if pulmonary fibrosis is suspected)
- EKG, echocardiogram, 6-minute walking test to assess right heart overload
In case of gastrointestinal problems:
- Scintigraphy or dynamometry of esophagus, gastroscopy, (dysphagia, refluxesophagitis), colonoscopy.
In case of renal involvement:
- Blood pressure monitoring, renal function tests, 24 hour urine, ultrasound, kidney biopsy in selected cases
In case of musculoskeletal problems:
- Muscles: CK, myositis-specific antibodies, EMG, MRI, muscle biopsy
- Joints: x-ray, sonography, rheumatoid factor, anti-CCP antibodies
Eosinophilic fasciitis, chronic graft-vs-host-disease, genodermatoses (Werner syndrome), porphyria cutanea tarda, amyloidoses, mucinoses, gadolinium-induced sclerosis.
Chemically induced scleroderma (polyvinyl chloride, silica, organic solvents, epoxy resins), drug-induced sclerosis (bleomycin, pentazocine, L-tryptophan).
Prevention & Therapy
No causal therapy available. Interdisciplinary treatment and guidance.
- True or false?
- What of these changes are typical for systemic sclerosis?
- Statement 1 When a patient complains of Raynaud phenomenon, systemic sclerosis and other connective tissue disorders must be ruled out
- A female patient suffers from dysphagia, Raynaud phenomenon and 2 areas of fingertip necrosis. She also complains that her face has become more red. What is the likely diagnosis?
- Which examinations should be performed in patients with systemic sclerosis?
- This 55-year-old woman has a painful non-healing sore on the tip of one thumb which appeared as she developed Raynaud phenomenon. What is the likely diagnosis?
- A middle-aged woman consults you because of increasing telangiectases on her cheeks. What are the differential diagnostic considerations?
- When this 45-year-old woman washes her hands in cold water, her right thumb and left index finger turn white, then violet, and are painful. In addition, she has noticed shortness of breath. What is the likely diagnosis?
Further Images / DOIA
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