Scleroderma Signs and Symptoms

• 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, pulmonary arterial hypertension (PAH) and primary cardiac damage

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
• Calcinoses
  • Formation of tender, tiny, whitish deposits of calcium under the skin of the fingers or other areas of the body
• Digital ischemic changes (eg abnormal capillaries in the nailfold, digital pitting or ulceration)

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, malabsorption syndrome
• Constipation
• Fecal incontinence, rectal prolapse
• Malnutrition resulting from digestive disorders

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 and carpal tunnel syndrome from tenosynovial involvement
• Wrist pain and proximal motor deficit 
• Bone resorption (acroosteolysis type) mainly affecting the distal phalanges of the hands and feet 
• Orofacial involvement causing limited mouth opening, chewing difficulties, joint and mandibular pain, bone and joint damage, periodontal disease and dental damage

Pulmonary

• Interstitial lung disease (ILD) (pulmonary fibrosis or fibrosing alveolitis)
  
  • Shortness of breath on exertion and eventually dyspnea at rest
  • Dry cough
  • Basilar fine crackles on auscultation
• PAH
  • Dyspnea on exertion
  • Diminished exercise tolerance, chest pain
  • Extra heart sound (right-sided S3), palpitations

Renal

• Malignant hypertension
• Rapidly progressive renal failure

Others

• Hypothyroidism
• Sjögren’s syndrome
• Erectile dysfunction in men and urinary incontinence, dyspareunia and vaginal dryness in women
• Entrapment neuropathies
• Primary biliary cholangitis 
• Cancer