Scleroderma of childhood
Alerts and Notices
Synopsis
Scleroderma, or systemic sclerosis, is a systemic connective tissue disease that causes sclerosis and hardening of the bodily tissues due to increased production and deposition of types I and III collagens. The word "scleroderma" means hard skin and is a part of many syndromes, occurring in a more common localized form called morphea and the systemic forms discussed here.
In children, localized disease, especially over the lower extremities, is more common than the systemic form. Localized forms of scleroderma, or morphea, can impact growth, leading to facial or limb asymmetry, contractures, and disability. In its localized form, scleroderma presents as smooth, circumscribed plaques of firm skin. The borders of localized scleroderma may be indurated with a slightly violaceous or erythematous hue.
Juvenile systemic sclerosis may affect the connective tissue in many parts of the body: the skin, esophagus, gastrointestinal tract, lungs, kidneys, heart, and other internal organs. It may also affect blood vessels, muscles, and joints. The esophagus is usually affected by fibrosis, and symptoms of dysphagia become apparent.
Juvenile systemic sclerosis may present in 3 different ways: diffuse cutaneous involvement, limited cutaneous involvement, and an overlap syndrome with features of connective tissue diseases such as dermatomyositis and systemic lupus erythematosus (SLE). Compared to adults with systemic sclerosis, the overlapping presentation with connective tissue disease is more common in pediatric patients.
CREST syndrome is a type of systemic sclerosis that presents with calcinosis, Raynaud disease, esophageal involvement, sclerodactyly, and telangiectasias. It generally has a more chronic course than systemic sclerosis.
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.
- Eosinophilic cellulitis
- Generalized myxedema
- Chronic graft-versus-host disease – Antinuclear antibody (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:10/04/2017
Last Updated:10/04/2017
Last Updated:10/04/2017