Scleroderma of childhood
Alerts and Notices
Synopsis
Pediatric scleroderma, or juvenile systemic sclerosis (JSSc), is a rare and severe multisystem autoimmune connective tissue disease that involves sclerotic changes of the skin and internal organs. It is estimated to affect 3 in 1 000 000 children.
While the etiology remains unknown, the disease is characterized by autoantibody production, collagen deposition, and vascular dysfunction. The mean age of onset in childhood is 8 years, and girls are affected more frequently than boys. Exceedingly rarely, disease onset may occur in infancy, when other congenital sclerosing disorders such as restrictive dermopathy should be considered.
Raynaud phenomenon is usually the initial presenting symptom of JSSc, along with nail fold capillary changes and positive antinuclear antibodies (ANA).
There are 3 major clinical subsets of scleroderma that are seen in childhood:
- Limited cutaneous scleroderma – Distal skin sclerosis, Raynaud phenomenon, frequent severe late-stage complications such as pulmonary hypertension, renal crisis, and gastrointestinal involvement. CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) refers to a subset of patients with limited scleroderma. CREST syndrome is rare in children.
- Diffuse cutaneous SSc – Proximal extremity or truncal skin demonstrates sclerosis early on; Raynaud phenomenon of shorter duration, early systemic involvement such as cardiac and lung fibrosis, and a high risk of renal crisis. Some patients experience rapidly progressive disease, but most experience a slower, more chronic course.
- Overlap syndrome with scleroderma – In this condition, limited or diffuse scleroderma occurs in concert with another connective tissue disease, such as systemic lupus erythematosus (SLE), juvenile dermatomyositis, or Sjögren syndrome. Overlap syndrome is more common in children than adults.
Codes
ICD10CM:M34.9 – Systemic sclerosis, unspecified
SNOMEDCT:
724603009 – Pediatric onset systemic sclerosis
Look For
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Monitor patients carefully for any symptoms of connective tissue diseases such as SLE and dermatomyositis.
- Generalized morphea – Asymmetric induration, no Raynaud phenomenon, no systemic involvement.
- Stiff skin syndrome – Characteristic sparing of the hands and feet, develops during early childhood, systemic involvement rare.
- Restrictive dermopathy – Tight, taut skin with erosions, contractures, ankylosis, and facial dysmorphism; early mortality.
- Eosinophilic cellulitis
- Generalized myxedema
- Chronic graft-versus-host disease – ANA negative, vascular abnormalities such as Raynaud phenomenon absent.
- Eosinophilic fasciitis – ANA negative, no Raynaud phenomenon, no facial involvement.
- Phenylketonuria
- Polyvinyl chloride exposure – ANA negative, cutaneous changes reverse with cessation of exposure.
- Carcinoid syndrome
- Bleomycin toxicity
- Radiation effects
Best Tests
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Management Pearls
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Therapy
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References
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Last Reviewed:03/14/2023
Last Updated:04/05/2023
Last Updated:04/05/2023