Diagnosis of juvenile systemic scleroderma

For the diagnosis of systemic scleroderma, preliminary diagnostic criteria for juvenile systemic scleroderma developed by European rheumatologists have been proposed (Pediatric Rheumatology European Society, 2004). To establish the diagnosis, two major and at least one minor criterion are required.

"Big" criteria

• Sclerosis/induration.
• Sclerodactyly (symmetrical thickening, hardening and induration of the skin of the fingers).
• Raynaud's syndrome.

"Small" criteria

• Vascular:
  • changes in the capillaries of the nail bed according to capillaroscopy data;
  • digital ulcers.
• Gastrointestinal:
  • dysphagia;
  • gastroesophageal reflux.
• Renal:
  • renal crisis;
  • the appearance of arterial hypertension.
• Cardiac:
  • arrhythmia;
  • heart failure.
• Pulmonary:
  • pulmonary fibrosis (according to CT and X-ray data);
  • impaired pulmonary diffusion;
  • pulmonary hypertension.
• Musculoskeletal:
  • flexor tendon contractures;
  • arthritis;
  • myositis.
• Neurological:
  • neuropathy;
  • carpal tunnel syndrome.
• Serological:
  • ANF;
  • specific antibodies (Scl-70, anticentromere, PM-Scl).

Laboratory research

Laboratory tests have a relative diagnostic value, but help to assess the degree of activity and the functional state of some internal organs.

• Clinical blood test. Increased ESR, moderate transient leukocytosis and/or eosinophilia are observed only in 20-30% of patients, so their changes do not always correlate with disease activity.
• General urine analysis, Zimnitsky urine analysis, and Reberg test are performed when kidney damage is suspected - they reveal moderate urinary syndrome, decreased filtration and concentration functions of the kidneys.
• Biochemical blood analysis. Hyperproteinemia, mainly due to an increase in the gamma globulin fraction, is observed in 10% of patients.

Immunological studies

The serum immunoglobulin G content is elevated in 30%, C-reactive protein - in 13% of patients with juvenile systemic scleroderma; rheumatoid factor is detected in 20% of patients with systemic scleroderma, ANF (usually homogeneous, speckled glow) - in 80% of patients, which indicates the activity of the disease and often determines the choice of more aggressive therapy.

Scleroderma-specific antibodies - Scl-70 (antitopoisomerase) are found in 20-30% of children with systemic scleroderma, more often in the diffuse form of the disease, anticentromere antibodies - in approximately 7% of children with the limited form of systemic scleroderma.

Instrumental research methods

• Musculoskeletal system:
  • X-ray of joints;
  • EMG to assess the extent of muscle damage.
• Respiratory organs:
  • study of external respiratory function;
  • chest x-ray;
  • High-resolution CT (as indicated).
• Cardiovascular system:
  • ECG;
  • EchoCG;
  • Holter ECG monitoring (as indicated).
• Gastrointestinal tract:
  • coprogram;
  • Ultrasound of the abdominal cavity;
  • barium enema x-ray of the esophagus;
  • esophagogastroduodenoscopy;
  • recto- and colonoscopy (as indicated).
• Nervous system:
  • electroencephalography;
  • MRI of the brain (as indicated).

Wide-field capillaroscopy of the nail bed reveals signs characteristic of systemic scleroderma - dilation of capillaries, their reduction with the formation of avascular fields, and the appearance of bushy capillaries.

Differential diagnosis of systemic scleroderma

Differential diagnosis of systemic scleroderma should be carried out with other diseases of the scleroderma group: limited scleroderma, mixed connective tissue disease, Buschke's scleroderma, diffuse eosinophilic fasciitis, as well as with juvenile rheumatoid arthritis, juvenile dermatomyositis.

Scleroderma-like skin changes can also be observed in some non-rheumatic diseases: phenylketonuria, progeria, cutaneous porphyria, diabetes, etc.

[ 1 ], [ 2 ], [ 3 ], [ 4 ], [ 5 ], [ 6 ], [ 7 ]