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Juvenile Systemic Sclerosis Workup

  • Author: Donald A Person, MD, FAAP, FACR; Chief Editor: Harumi Jyonouchi, MD  more...
 
Updated: Sep 12, 2014
 

Laboratory Studies

In juvenile systemic sclerosis (JSSc) as in many of the systemic rheumatic diseases, inflammation may be associated with anemia, thrombocytosis and possibly eosinophilia. Therefore, obtaining routine CBC counts and erythrocyte sediment rates (ESRs) is prudent. Other early studies may include a urinalysis, chemistry survey, and ANA tests. These tests help to establish baseline values before the introduction of potentially toxic medications (see Medication).

  • Early in the course of the disease, few, if any, laboratory finding abnormalities may be present. Later, mild anemia with slight thrombocytosis may be evident. Regular monitoring of these values may be warranted when a diagnosis of systemic sclerosis is suspected.
  • The ESR is often normal or only mildly elevated in patients with juvenile systemic sclerosis. The largest published case series showed elevation of ESR in 34% of patients.
  • Peripheral eosinophilia should alert the clinician to one of the variants of scleroderma.
  • Hematuria, proteinuria, and cellular casts are an ominous sign in patients with juvenile systemic sclerosis and may represent impending renal insufficiency.
  • Survey chemistry findings are useful in monitoring disease activity and drug-associated toxicities.
  • Rheumatoid factor (RF) is present in 17% of patients with juvenile systemic sclerosis, slightly less than the 25% of those with adult-onset disease.
  • Immunologic tests are often helpful in patients with JSSc. Patients often have a positive ANA (with a speckled staining pattern, most commonly nucleolar). The precise frequency is debated, but most experts estimate that between 81-97% of patients with JSSc have a positive ANA. Antinucleolar staining is observed almost exclusively in adult and pediatric patients with systemic sclerosis. Some of the other autoantibodies suggestive of systemic sclerosis or scleroderma that have been described include those listed below. However, note that as many as one third of patients who are diagnosed with JSSc and have positive ANA findings do not have any of the more specific autoantibodies, including the following:
    • Anti-SCL 70 - Specific for topoisomerase I, found in 28-34% of cases
    • Anti–RNA polymerase
    • Anti-centromere - Only found in 7-8% of juvenile systemic sclerosis cases compared with 21-23% of adults systemic sclerosis cases
    • Anti-fibrillarin
    • Anti-PM-Scl
    • Anti-RNA polymerase I or II
  • Contrary to findings in adult disease, the presence of anti-topoisomerase I and anti-RNA polymerase III antibodies are not associated with poorer survival in JSSc.
  • In one third of cases, quantitative immunoglobulin levels may demonstrate a mild to modest immunoglobulin G (IgG) hypergammaglobulinemia. This nonspecific polyclonal gammopathy is detectable in many chronic inflammatory and systemic rheumatic diseases. Complement levels are normal in most cases. Test results for circulating immune complexes are usually negative.
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Imaging Studies

See the list below:

  • Although once commonly obtained in patients with juvenile systemic sclerosis, barium swallow with small bowel follow-through has been replaced by esophageal manometry.
  • High-resolution thin-cut CT (HRCT) of the lungs has been helpful in making the diagnosis and in following the progress of diffuse interstitial pneumonitis and pulmonary fibrosis in patients with juvenile systemic sclerosis.
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Other Tests

See the list below:

  • Nailfold capillaroscopy may reveal changes prior to the onset of systemic symptoms. The changes noted on nailfold capillaroscopy in patients with Raynaud phenomenon include abnormal capillary dilation (resulting from vasculopathy) or loss of nailfold capillaries.
  • Although high resolution computed tomography (HRCT) remains the imaging study of choice when monitoring patients with JSSc for early evidence interstitial pneumonitis and pulmonary fibrosis, the diffusing capacity of the lung for carbon monoxide (DLCO) test is the most sensitive for detecting early evidence of pulmonary fibrosis.
  • Although skin biopsies have been useful in assessing patients with systemic sclerosis for years, the results are not specific and must always be correlated with clinical features. Tests for collagen synthesis have not been consistently helpful, and their performance and interpretation requires the expertise of a research laboratory.
  • Esophageal manometry is currently the study of choice for diagnosis of esophageal involvement in patient with juvenile systemic sclerosis.
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Histologic Findings

See the list below:

  • Early in the course of systemic sclerosis, an inflammatory reaction with subintimal vascular proliferation and an infiltration of round cells often goes unrecognized. After a varying length of time, fibrosis follows this reaction. Fibrosis characterizes the final common pathway in systemic sclerosis.
  • In the skin, thinning of the epidermis occurs, with loss of rete pegs as collagens and accumulation of other matrix proteins in the dermis. Early studies made use of this feature to quantitate dermal thickness in skin biopsies and relate the degree of fibrosis with disease severity.
  • Arteriolar and capillary endothelial proliferation precedes fibrosis in the visceral organs. Prognosis is related to the intensity and rapidity of fibrosis in the lungs, heart, GI tract, and kidney. Finally, atrophy ensues, and vital function is compromised.
  • Humoral and cellular immunity both contribute to the pathology of systemic sclerosis, but the intimate details remain to be elucidated. The complex relationships among immune, vascular, and fibrotic perturbations may help explain the difficulties encountered in the treatment of patients with systemic sclerosis.
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Contributor Information and Disclosures
Author

Donald A Person, MD, FAAP, FACR Medical Director (Emeritus), Pacific Island Healthcare Project; Expert Consultant in Pediatrics, Pediatric Rheumatology, Telemedicine, and Scientific Review, Tripler Army Medical Center; Professor of Pediatrics, F Edward Herbert School of Medicine, Uniformed Services University of the Health Sciences; Clinical Professor of Pediatrics and Public Health (Retired), University of Hawaii, John A Burns School of Medicine

Donald A Person, MD, FAAP, FACR is a member of the following medical societies: Society for Experimental Biology and Medicine, American Academy of Pediatrics, American College of Rheumatology, American Medical Association, American Pediatric Society, American Society for Microbiology, American Society of Tropical Medicine and Hygiene, Association of Military Surgeons of the US, Clinical Immunology Society, Federation of American Societies for Experimental Biology, Pediatric Infectious Diseases Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Cecilia P Mikita, MD, MPH Associate Program Director, Allergy-Immunology Fellowship, Associate Professor of Pediatrics and Medicine, Uniformed Services University of the Health Sciences; Staff Allergist/Immunologist, Walter Reed National Military Medical Center

Cecilia P Mikita, MD, MPH is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Luke M Webb, MD Staff Physician, Department of Allergy and Immunology, Evans Army Community Hospital

Luke M Webb, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

David J Schwartz, MD Staff Physician, Department of Allergy and Immunology, Eisenhower Army Medical Center

David J Schwartz, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David J Valacer, MD 

David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD Faculty, Division of Allergy/Immunology and Infectious Diseases, Department of Pediatrics, Saint Peter's University Hospital

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Pediatric Research, Society for Mucosal Immunology

Disclosure: Nothing to disclose.

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An 8-year-old girl with overlap syndrome with evolution to progressive systemic sclerosis (PSS).
Photo of hands revealing sclerodactyly. This demonstrates the progression of disease over 7 years.
Chest radiograph revealing diffuse, coarse interstitial marking with bilateral lower lobe bronchiectasis.
Axial CT scan of the chest of a 15-year-old female adolescent with progressive systemic sclerosis (PSS).
Esophagram revealing dysmotility.
 
 
 
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