Scleroderma overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] M. Khurram Afzal, MD [2]
Overview
Scleroderma is a rare, chronic disease characterized by excessive deposits of collagen in the skin or other organs. The localized type of the disease, while disabling, tends not to be fatal. Diffuse scleroderma or systemic sclerosis, the generalized type of the disease, can be fatal as a result of heart, kidney, lung or intestinal damage.[1]
Historical Perspective
The word scleroderma comes from greek words; skleros (hard) and derma (skin). Scleroderma was first described by Carlo Curzio in Naples, Italy in 1753. The association between abnormal vasoconstriction and diffuse scleroderma was made in 1865 by Raynaud.
Classification
Scleroderma (systemic sclerosis) is classified into 2 subtypes, limited cutaneous scleroderma and diffuse cutaneous scleroderma. Morphea and CREST syndrome are variants of limited cutaneous scleroderma. Scleroderma was previously classified according to American College of Rheumatology (ACR) 1980 preliminary scleroderma criteria. Scleroderma (systemic sclerosis) is now classified according to the new American College of Rheumatology (ACR)/ European League Against Rheumatism (EULAR) criteria.
Pathophysiology
Causes
The cause of scleroderma has not been identified. There is a possibility of an underlying immunologic abnormality. To review risk factors for the development of scleroderma click here.
Differentiating Scleroderma from other Diseases
Scleroderma must be differentiated from other diseases that cause skin thickening, sclerodactyly, edema and symptoms of GERD such as scleredema, scleromyxedema, eosinophilic fasciitis, chronic graft-versus-host disease, drug induced scleroderma, scleroderma overlap syndromes, diabetic cheiroarthropathy, myxedema and nephrogenic systemic fibrosis.
Epidemiology and Demographics
The majority of cases of scleroderma have been reported from the United States. The prevalence of scleroderma is approximately 24 cases per 100,000 individuals in the United States. Scleroderma commonly affects individuals between 20 to 50 years of age. Choctaw native Americans have a much higher prevalence of scleroderma than the general population. Females are more commonly affected than males. Familial clustering of scleroderma has been reported in United States and Australia.
Risk Factors
Common risk factors in the development of scleroderma include occupational and environmental exposure to certain chemicals, certain genetic variations and infectious agents. Most commonly implicated occupational and environmental risk factors are exposure is to silica, chlorinated and aromatic solvents as well as welding fumes.
Screening
There is insufficient evidence to recommend routine screening for scleroderma, however screening is recommended for pulmonary arterial hypertension and malignancy in scleroderma patients. Regular blood pressure monitoring at home is encouraged in patients with scleroderma to screen for renal involvement and prevention of scleroderma renal crisis
Natural History, Complications and Prognosis
If left untreated, patients with scleroderma may progress to develop pulmonary arterial hypertension (PAH), interstitial lung disease and severe gastrointestinal disease. Common complications of scleroderma include pulmonary fibrosis, pulmonary arterial hypertension, interstitial lung disease and scleroderma renal crisis. The 10-year survival rate of patients with scleroderma is approximately 70%-80%.
Diagnosis
Diagnostic Study of Choice
There is no single diagnostic study of choice for the diagnosis of scleroderma. Scleroderma is mainly diagnosed based on clinical presentation, though scleroderma (systemic sclerosis) maybe diagnosed based on the new American College of Rheumatology (ACR)/ European League Against Rheumatism (EULAR) classification criteria. The new criteria is more sensitive and is better for detecting disease earlier, so that the fatal renal and pulmonary complications can be screened for and prevented.
History and Symptoms
The hallmark of scleroderma is sclerodactyly. A positive history of progressive skin tightening and hardening is suggestive of scleroderma. The most common symptoms of scleroderma include skin tightening or induration, Raynaud's phenomenon and symptoms of Gastroesophageal reflux disease (GERD). Less common symptoms of scleroderma include shiny skin appearance and restricted movement of affected areas of the skin.
Physical Examination
Patients with scleroderma usually appear anxious. Physical examination of patients with scleroderma is usually remarkable for sclerodactyly, Raynaud's phenomenon, digital ulcers, skin fibrosis and telangiectasias.
Electrocardiogram
An ECG may be helpful in the diagnosis of scleroderma heart disease. Findings on an ECG suggestive of scleroderma heart disease include left bundle branch block, right bundle branch block and septal infarction pattern. It is recommended to screen for myocardial fibrosis with an annual electrocardiogram in patients with scleroderma.
Chest X Ray
An x-ray of the chest may be helpful in the diagnosis of scleroderma interstitial lung disease and pulmonary fibrosis.Although it is usually not as sensitive as HRCT, findings on an x-ray suggestive of scleroderma interstitial lung disease include, interstitial opacification, reticular areas of attenuation, ground glass opacity greatest at lung bases.
CT Scan
High-resolution CT (HRCT) scan of the chest may be helpful in the diagnosis of scleroderma interstitial lung disease and pulmonary hypertension. Findings on HRCT suggestive of interstitial lung disease include architectural distortion due to pulmonary fibrosis, reticular interlobular interstitial thickening, increased ground glass opacity and accentuated reticular markings on juxtapleural, posterior and basilar portion of the lungs, traction bronchiectasis and honeycomb cystic change
MRI
There are no MRI findings associated with scleroderma.
Echocardiography or Ultrasound
There are no echocardiography/ultrasound findings associated with scleroderma. However, a transthoracic echocardiography (TTE) may be helpful in the diagnosis of complications of scleroderma, which include pulmonary arterial hypertension (PAH).
Other Imaging Findings
Nail-fold video capillaroscopy (NVC) may be helpful in the diagnosis of scleroderma. Findings on nail-fold video capillaroscopy diagnostic of raynaud's phenomenon (RP) and scleroderma microangiopathy include nail-fold capillary abnormalities, capillary dilatation, and capillary loop drop-out. Findings on nail-fold video capillaroscopy diagnostic of scleroderma microangiopathy are graded into 3 phases; early, active and late.
Other Diagnostic Studies
Treatment
Medical Therapy
The mainstay of treatment for scleroderma is medical therapy. Pharmacologic medical therapies for scleroderma include topical tacrolimus for morphea, methotrexate for diffuse sclerosis of the skin, minocycline for calcinosis cutis, nifedipine for Raynaud's phenomenon, captopril for scleroderma renal crisis, treatment of gastroesophageal reflux disease and pulmonary hypertension. Localized phototherapy with ultraviolet light is preferred for the treatment of morphea.
Surgery
Surgical intervention is not recommended for the management of scleroderma.
Primary Prevention
Effective measures for the primary prevention of scleroderma include avoiding occupational and environmental exposure to crystalline silica, epoxy resins, welding fumes and hand-arm vibration.
Secondary Prevention
There are no established measures for the secondary prevention of scleroderma. However, effective measures for the secondary prevention of pulmonary arterial hypertension and scleroderma renal crisis in patients with scleroderma include screening.
References
- ↑ Klippel J (ed). Systemic sclerosis and related syndromes. Primer on the rheumatic diseases, 11th edition. The Arthritis Society. 1997;269. ISBN 1-91242-316-2.