A noncontagious, chronic, multisystem disease.
Initial symptoms are nonspecific and include fatigue, vague musculoskeletal complaints, diffuse swelling of hands, and Raynaud phenomenon.
Etiology and pathogenesis are unknown.
Disease course is variable, but the condition rarely subsides spontaneously.
There are two main subtypes of systemic sclerosis (SSc): limited cutaneous SSc and diffuse cutaneous SSc. The limited cutaneous form tends to have less severe internal organ involvement and a better prognosis, but these subjects still need to be followed closely for possible complications.
Clinical course is determined by extent of vascular and fibrosing complications. Vascular involvement includes Raynaud phenomenon, ischemic digital ulcers, hypertensive crisis, and pulmonary arterial hypertension. Fibrosis can involve lungs, heart, and gastrointestinal tract.
Treatment is targeted on disease processes that are potentially reversible (e.g., active inflammation or vasoconstriction) and aims to minimize functional impairment of the patient.
Systemic sclerosis (SSC), also known as scleroderma, is a multisystem, autoimmune disease, characterized by functional and structural abnormalities of small blood vessels, fibrosis of skin and internal organs, and production of autoantibodies.
History and exam
Key diagnostic factors
- Raynaud phenomenon
- digital pits or ulcers
- swelling of the hands and feet
- skin thickening
- loss of function of hands
- heartburn, reflux, and dysphagia
- fecal incontinence
- arthralgias and myalgias
- abnormal nail-fold capillaroscopy
- subcutaneous calcinosis
- dry crackles at lung bases
- tendon friction rub
- abrupt onset moderate/marked hypertension
Other diagnostic factors
- dry cough
- decreased exercise tolerance
- weight loss
- inflammatory arthritis
- proximal muscular weakness (inflammatory myositis)
- increased accentuation of the pulmonic component of S2 heart sound
- signs of anemia
- famliy history of scleroderma
- immune dysregulation (e.g., positive ANA)
- exposure to environmental substances and toxins (e.g., silica dust or solvents)
1st investigations to order
- serum autoantibodies
- BUN and serum creatinine
- urine microscopy
- complete pulmonary function tests (spirometry, lung volumes, and diffusing capacity measurement)
- chest x-ray
- barium swallow
Investigations to consider
- high-resolution CT scan of chest
- upper gastrointestinal endoscopy ± biopsy
- serum muscle enzymes
- electromyogram/nerve conduction studies
- muscle biopsy
scleroderma renal crisis
Raynaud phenomenon: no ulcers
Raynaud phenomenon: with digital ulcer development
generalized skin involvement
synovitis, tendon friction rub, or inflammatory arthritis
interstitial lung disease
pulmonary arterial hypertension
Maureen D. Mayes, MD, MPH
Professor of Medicine
Division of Rheumatology and Clinical Immunogenetics
University of Texas Health Science Center
Houston Medical School
MDM is an advisory board member for Boehringer-Ingelheim, Galapagos, Corbus, and Eicos. MDM is on the grant review board for Medtelligence. She receives royalties from Oxford University Press and Henry Stewart Talks. MDM is an author of a number of references cited in this topic.
Dr Maureen D. Mayes would like to gratefully acknowledge Dr Rajpreet K. Arora-Singh, a previous contributor to this topic. RKA declares that she has no competing interests.
Mary Ellen Csuka, MD
Associate Professor of Medicine
Department of Rheumatology
Medical College of Wisconsin
MEC has been reimbursed by: Actelion International (and is a member of its speakers bureau); Encysive Pharmaceuticals; and MediQuest Therapeutics. She is local principal investigator for the SCOT trial, sponsored by NIH.
Jerry Molitor, MD, PhD
Division of Rheumatic and Autoimmune Diseases
Department of Medicine
University of Minnesota
JM declares that he has no competing interests.
Bridget Griffiths, MD, FRCP(UK)
Department of Rheumatology
Newcastle Upon Tyne
BG declares that she has no competing interests.
Ariane L. Herrick, MD, FRCP
Reader in Rheumatology and Consultant Rheumatologist
Musculoskeletal Research Group
University of Manchester
ALH declares that she has no competing interests.
- Primary Raynaud phenomenon
- Localized scleroderma (morphea)
- Mixed connective tissue disease
- Guideline for vaccinations in patients with rheumatic and musculoskeletal diseases
- Update of EULAR recommendations for the treatment of systemic sclerosis
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