Systemic Sclerosis

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What is Systemic Sclerosis?

Systemic Sclerosis (SSc) is an autoimmune inflammatory disorder that can cause extensive fibrosis and vascular abnormalities, affecting various organs such as the skin, lungs, gastrointestinal tract, heart, and kidneys. 

Systemic sclerosis is classified into subtypes based on the pattern of skin involvement:

  • Diffuse Cutaneous Systemic Sclerosis (dcSSc)
  • Limited Cutaneous Systemic Sclerosis (lcSSc)
  • Systemic sclerosis sine scleroderma

 

Causes of Systemic Sclerosis 

The exact cause of systemic sclerosis remains unclear, but it is believed to result from a combination of genetic, environmental, and immunological factors:                                                                                                 

  •  Genetic Factors: Specific genetic loci that are associated with the disease have been identified.                                                                                  
  •  Environmental Triggers: Exposure to certain environmental factors, such as silica dust, vinyl chloride, trichloroethylene, and some drugs (e.g., penicillamine), may trigger the disease in genetically predisposed individuals.                                                                                                                                                                            
  • Immune pathways: Several pathways are likely implicated in the development of systemic sclerosis. These include cytokines that damage blood vessels, growth factors that promote collagen production, integrin signaling, morphogen pathways, co-stimulatory pathways, and others.

 

 

Clinical features of Systemic Sclerosis 

Generally there is thickening and hardening of the skin, which appears smooth, shiny, and puffy.

Hands

  • Sclerodactyly
  • Puffy Fingers
  • Raynaud’s Phenomenon: Reduced blood flow to fingers in response to cold or stress.
  • Nail Changes: abnormal capillaries at the nail fold, smaller fragile nails with ragged cuticles, and digital pitted scars.
  • Digital Ulcers
  • Palmar erythema affecting thenar/hypothenar eminence

Face

  • Matt Telangiectases
  • Peri-Oral Furrowing 
  • Microstomia
  • Beaked Nose

Other Features

  • Calcinosis: Deposits affecting fingers and extensor surfaces, which can break down and discharge chalky material (calcium)
  • Salt and Pepper Dyspigmentation:  of hyperpigmentation and vitiligo-like depigmentation.
  • Pruritus

Rarer Cutaneous Features

  • Morphoea: Often appears as plaque, nodular, or linear lesions; more common in limited cutaneous systemic sclerosis.
  • Panniculitis

Organ Involvement: 

  • It can affect the lungs, heart, kidneys, and gastrointestinal tract.
  • Constitutional symptoms are common, such as fatigue, arthralgia, and myalgia.

 

Diagnosis of Systemic Sclerosis 

Diagnosing systemic sclerosis (SSc) involves a combination of clinical evaluation, laboratory tests, and imaging studies.

Key Features for Diagnosis

  • Sclerodactyly
  • Abnormal Nail Fold Capillaries are detected through capillaroscopy or dermatoscopy.
  • Autoantibodies: Testing for specific autoantibodies:
  • Anti-Scl70
  • Anticentromere antibodies
  • Internal Organ Involvement: Evidence of fibrosis or damage in internal organs, such as the lungs, heart, or kidneys.

Laboratory Tests

  • Antinuclear Antibodies (ANA): Often positive in SSc patients.
  • Inflammatory Markers: CRP and ESR 
  • BNP

Additional Investigations

  • Pulmonary Function Tests
  • High-Resolution CT (HRCT) Chest
  • Echocardiogram
  • Gastrointestinal Studies: Such as EGD to assess esophageal involvement
  • In some cases, a skin biopsy may be performed

 

Treatment of Systemic Sclerosis 

There is no cure for systemic sclerosis, treatment is mainly symptomatic and organ system specific.

Supportive care

  • Protect hands from trauma and cold exposure (e.g., by wearing gloves)
  • Keep skin moisturized (e.g., with warm oil, paraffin baths, and emollients)
  • Promote smoking cessation
  • Consider vasodilatory physical therapy and lymphatic drainage
  • Provide antihistamines for pruritus

Cutaneous Disease Management:

Raynaud Phenomenon (RP): First-line treatment includes calcium channel blockers.

For severe or refractory cases, consider adding oral PDE-5 inhibitors (e.g., sildenafil) or IV iloprost.

Digital Ulceration (DU):  PDE-5 inhibitors (e.g., tadalafil) or IV iloprost.

For severe or refractory cases, bosentan may be considered.

Cutaneous Fibrosis: In early diffuse systemic sclerosis, treatment options include phototherapy and pharmacotherapy such as methotrexate or mycophenolate mofetil.

For severe or refractory fibrosis, cyclophosphamide or autologous hematopoietic stem cell transplantation (HSCT) may be necessary.

Calcinosis Cutis: Treatment options include carbon dioxide laser therapy or surgical removal of symptomatic lesions.

For scleroderma renal crisis: use of ACE inhibitors ( captopril ). 

For gastrointestinal disease: use proton pump inhibitors for GERD.GI motility disorder: prokinetic therapy, e.g., metoclopramide.

Cardiopulmonary disease requires targeted treatment for heart and lung conditions. 

 

 

Written by:

Atheer Alhuthaili, Medical Intern

Revised by:

Naif Alshehri, Medical Intern

References:

DermNet

Amboss 

Medscape