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
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
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.
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
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
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
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
Surgery
Prevention
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.