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 with the following primary features:
    • Vascular damage
      • Earliest manifestation of scleroderma resulting in loss of normal vascular tone, fibrin deposition and 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 and upper subcutaneous layer and occurs together with loss of microvasculature, reduction of appendages and loss of reticular structure and the rete ridges
  • 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 (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 and tightening of the skin causes limitation of motion of the fingers and toes
      • At a later stage, it gives the skin a shiny and slightly puffy appearance
  • Telangiectasias
    • Numerous flat red marks frequently found on the face, hands and in the mouth behind the lips, caused by dilation of small superficial vessels and capillaries
  • Calcinosis
    • Formation of tender, tiny, whitish deposits of calcium under the skin of the fingers or other areas of the body

Cardiac  

  • Pericardial disease (eg pericarditis, pericardial effusion)  
  • Myocardial disease (eg myocarditis) 
  • Conduction system defects (eg arrhythmias)  
  • Coronary artery disease  
  • Myocardial fibrosis leading to congestive heart failure 

Gastrointestinal

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

Musculoskeletal

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

Pulmonary

  • Interstitial lung disease (pulmonary fibrosis or fibrosing alveolitis)
    • Shortness of breath on exertion and 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)

Renal

  • Malignant hypertension
  • Rapidly progressive renal failure

Others

  • Hypothyroidism
  • Sjögren’s syndrome
  • Erectile dysfunction
  • Entrapment neuropathies
Editor's Recommendations
Most Read Articles
21 Apr 2020
A bidirectional association exists between alopecia areata (AA) and major depressive disorder (MDD) among probands and unaffected siblings, reveals a study. This suggests that shared familial mechanisms tend to cause AA and MDD.
16 Feb 2020
A 1.5% ruxolitinib cream does not seem to be effective for patients with alopecia areata, a recent phase II study has found.