Diagnosis and differential diagnosis of systemic sclerosis (scleroderma) in adults
- John Varga, MD
John Varga, MD
- John and Nancy Hughes Professor of Medicine
- Northwestern University Feinberg School of Medicine
Systemic sclerosis (SSc) is a multisystem disease characterized by widespread vascular dysfunction and progressive fibrosis of the skin and internal organs. The diagnosis of SSc and related disorders is based primarily upon the presence of characteristic clinical findings, and supported by specific serologic abnormalities. The various cutaneous and visceral manifestations of SSc are discussed separately. (See "Overview of the clinical manifestations of systemic sclerosis (scleroderma) in adults".)
SSc is a heterogenous disease, but two distinct clinical subsets are traditionally recognized based on the extent of skin involvement: limited cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc). Patients with lcSSc typically have skin involvement distal to the elbows and knees, and may display features of the CREST syndrome (Calcinosis cutis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia). Patients with dcSSc generally have skin involvement extending to the proximal limbs and/or trunk. The classification of scleroderma disorders is discussed in detail separately. (See "Overview and classification of scleroderma disorders".)
This topic will review the diagnosis and differential diagnosis of SSc in adults. Localized scleroderma, scleroderma-like conditions, and scleroderma disorders in childhood are presented separately. (See "Localized scleroderma in childhood" and "Overview and classification of scleroderma disorders", section on 'Localized scleroderma'.)
EVALUATION FOR SUSPECTED SYSTEMIC SCLEROSIS
Systemic sclerosis (SSc) should be suspected in patients with skin thickening, puffy or swollen fingers, hand stiffness, and painful distal finger ulcers. Symptoms of Raynaud phenomenon (RP) and gastroesophageal reflux are often present (see "Clinical manifestations and diagnosis of the Raynaud phenomenon").
With the physical examination, the clinician should look for evidence of the following findings:
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- EVALUATION FOR SUSPECTED SYSTEMIC SCLEROSIS
- Laboratory testing
- Additional studies
- Systemic sclerosis
- Systemic sclerosis sine scleroderma
- Systemic sclerosis classification criteria
- - 2013 Classification criteria
- - Preliminary criteria for early diagnosis
- DIFFERENTIAL DIAGNOSIS
- Causes of scleroderma-like skin changes
- Raynaud phenomenon
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS