scleroderma
SCLERODERMA
Scleroderma is a connective tissue disorder characterized by skin thickening and fibrosis. It is rare, autoimmune and chronic.
It has an idiopathic cause and not contagious.
Early microvascular damage, mononuclear cell infiltrates and slowly developing fibrosis are the important features of the tissue lesions.
The leading causes of death are pulmonary fibrosis and pulmonary arterial hypertension.

Introduction

  • Scleroderma is a rare, autoimmune, chronic, connective tissue disease w/ the following primary features:
    • Vascular damage
      • Earliest manifestation of scleroderma, resulting in loss of normal vascular tone, fibrin deposition & intravascular thrombosis
    • Immune system activation
      • Autoantibodies against various cellular antigens (ie anticentromere antibodies, anti-Scl-70 antibodies)
    • Extensive fibrosis
      • Causes the main symptoms of scleroderma
      • It begins in the lower dermis & upper subcutaneous layer & occurs together w/ loss of microvasculature, reduction of appendages & loss of reticular structure & the rete ridges
  • Idiopathic cause & not contagious
  • Early microvascular damage, mononuclear cell infiltrates & slowly developing fibrosis are the important features of the tissue lesions
  • The leading causes of death are pulmonary fibrosis & pulmonary arterial hypertension (PAH)

Signs and Symptoms

Raynaud’s phenomenon

  • Sequential change of color of the fingers or toes from white (due to lack of blood flow or vasospasm), blue (caused by oxygen consumption or ischemia) to red (hyperemia) as blood flow returns to the digits during exposure to cold or sudden surge of emotions
  • Caused by spasm or constriction of the blood vessels of the fingers, toes, nose, tongue, or ears
  • Most often earliest sign of scleroderma

Dermatological

  • Sclerodactyly (acrosclerosis)
    • Thickening & tightening of the skin causes limitation of motion of the fingers & toes
      • At a later stage, it gives the skin a shiny & slightly puffy appearance

Telangiectasias

  • Numerous flat red marks frequently found on the face, hands & in the mouth behind the lips, caused by dilation of small superficial vessels & capillaries

Calcinosis

  • Formation of tender, tiny, whitish deposits of calcium under the skin of the fingers or other areas of the body

Gastrointestinal

  • Esophageal dysmotility
    • Poorly functioning muscle of the lower 2/3 of the esophagus, causes heartburn, inflammation & potentially scarring
  • Odynophagia
  • Diarrhea
  • Fecal incontinence
  • Gastroparesis/Pseudo-obstruction
  • Dysphagia
  • Constipation
  • Delayed gastric emptying
  • Bacterial overgrowth syndrome

Pulmonary

  • Interstitial lung disease (pulmonary fibrosis or fibrosing alveolitis)
    • Shortness of breath on exertion & eventually dyspnea at rest
    • Dry cough
    • Basilar, fine crackles in auscultation
  • Pulmonary hypertension
    • Dyspnea on exertion
    • Diminished exercise tolerance
    • Extra heart sound (right-sided S3)

Musculoskeletal

  • Inflammation of the joints cause stiffness, warmth & tenderness
  • Numbness & tingling in the digits
  • Contractures (ie the joint is in a fixed bent position)
  • Puffy hands w/ myalgia & arthralgia causing difficulty making a fist
  • Tendon friction rubs
  • Wrist pain
  • Digital ischemic changes (eg abnormal capillaries in the nail fold, digital pitting or ulceration)

Renal

  • Malignant hypertension
  • Rapidly progressive renal failure

Cardiac

  • Myocardial disease
  • Conduction system defects
  • Myocardial fibrosis leading to congestive heart failure
  • Arrhythmias
  • Pericardial disease

Others

  • Hypothyroidism
  • Sjögren’s syndrome
  • Erectile dysfunction
  • Entrapment neuropathies
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