Scleroderma - Diagnosis

Diagnosis

Typical scleroderma is classically defined as symmetrical skin thickening, with about 90% of cases also presenting with Raynaud's phenomenon, nail-fold capillary changes, and antinuclear antibodies. Patients may or may not experience systemic organ involvement. Atypical scleroderma may show any variation of these changes without skin changes or with finger swelling only. Additional symptoms of scleroderma typically present themselves within two years of Raynaud's phenomenon.

Laboratory testing can show antitopoisomerase antibodies, like anti-scl70 (causing a diffuse systemic form), or anticentromere antibodies (causing a limited systemic form, and the CREST syndrome). Other autoantibodies can be seen, such as anti-U3 or anti-RNA polymerase.

Severe complications from scleroderma include:

  • Heart: Untreated high blood pressure strains the heart; irregular heart rhythm and enlargement of the heart lead to heart failure.
  • Kidney: Scleroderma renal crisis in which malignant hypertension develops and causes acute renal failure was once a common cause of death, but is now treatable with ACE inhibitors.
  • Lung: Two-thirds of all patients suffer from respiratory problems, such as shortness of breath, coughing, difficulty breathing, alveolitis (inflammation of lung air sacs), pneumonia, and cancer.
  • Digestive: Esophagus damage can make it difficult to swallow food, and acid reflux is common. The stomach can develop gastric antral vascular ectasia (GAVE), which occasionally may bleed profusely. A sluggish intestine may cause pain and bloating; undigested food can result in diarrhea, flatulence, weight loss, and anemia.
  • Skin and joints: Carpal tunnel syndrome is common, as are muscle weakness, joint pain, and stiffness.
  • Mouth: Flat white patches, loss of attached gingival mucosa, gingival recession, and diffuse widening of the periodontal ligament (PDL) space are seen. Dysphagia may result from collagen deposition in the lingual and esophageal submucosa. Resorption of the posterior ramus of the mandible, the coronoid process, and the condyle are seen due to pressure from abnormal collagen production in adjacent areas. Inelasticity of the mouth may make dentures or dental prostheses difficult to insert and remove.

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