Overview of Diffuse Systemic Scleroderma Presented by Amanda Thorpe
Diffuse Systemic Scleroderma is also variously known as Scleroderma (SD), Diffuse Sclerosis, Diffuse Scleroderma, Diffuse Cutaneous Scleroderma, Systemic Sclerosis (SSc), Progressive Systemic Sclerosis (PSS).
It also includes Scleroderma sine Scleroderma (Scleroderma without Scleroderma), and the subset of Familial Progressive Systemic Sclerosis (FPSS). (Also see: What is Scleroderma? and Types of Scleroderma)
Causes of Scleroderma
Causes of Scleroderma. The cause of scleroderma is generally unknown, however areas being investigated include autoimmunity, environmental exposures, genetics, and infections. Scleroderma is not believed to be contagious; you cannot get it by hugging or kissing someone or other intimate contact. However there is an increased incidence of certain types of cancer among scleroderma patients. (Also see: Associated Conditions) ISN.
Antibodies to RNA Polymerase III in Systemic Sclerosis Detected by ELISA. Anti-RNAP-III autoantibodies were found in nearly 20% of SSc patients but in less than 1% of controls, thus detection of this antibody is a useful marker to help diagnose SSc. As well, this antibody has prognostic utility, since it is associated with scleroderma renal crisis and the diffuse cutaneous form of SSc. J Rheumatol 2007 July;34:1528-34. (Also see: Antibodies and Renal Involvement)
Diffuse Scleroderma is diagnosed whenever there is proximal tight skin. Proximal means located closest to the reference point. And here is where the plot thickens for Scleroderma patients who have skin tightness only between their wrists and their elbows, because there are two different definitions of what the reference point should be when bandying about this proximal word:
2. Dr. LeRoy defines proximal tight skin as skin tightness above the elbows. Europeans and many centers in the United States use this definition for proximal tight skin. (2)
Therefore, someone with skin tightness only between their elbows and their wrists will receive a diagnosis of either Diffuse or Limited Systemic Scleroderma, depending on which definition of "proximal" their doctor uses.
The diagnosis is clinical, and requires no laboratory or special testing.
Sine: Diffuse Scleroderma Without Skin Involvement
"Skin sclerosis is no longer regarded as mandatory for the diagnosis of systemic sclerosis." Prof. Carol Black, 2004
Sometimes Diffuse Systemic Scleroderma leaves the skin and joints untouched, and affects only the connective tissue of the digestive system or some other internal body system. In the absence of visible skin involvement, "Scleroderma sine Scleroderma," is diagnosed, which basically means "Diffuse Scleroderma without Scleroderma (skin involvement)."
In Scleroderma sans Scleroderma, Raynaud's may or may not be present. The usual presentation is with pulmonary (lung) fibrosis, and/or Scleroderma renal (kidney) crisis, and/or cardiac (heart) disease, and/or gastrointestinal disease. Antinuclear antibodies (ANA) may sometimes (but not necessarily) be present (Scl-70, ACA.)
Systemic sclerosis sine scleroderma associated with antiphospholipid syndrome (APS). Cases described in medical literature associate the presence of antiphospholipid antibodies with the presence of APS and systemic sclerosis (SS). We describe the first case of a patient with APS associated with systemic sclerosis sine scleroderma. Rheumatol Int. 2012 Oct;32(10):3265-8.
Diffuse Systemic Scleroderma causes variety of complications that can affect the skin, mouth, eyes and internal organs such as the lungs, heart, kidneys, and the entire gastrointestinal tract. See Scleroderma Symptoms and Treatments.
Progression
About 95 percent of people with Diffuse Systemic Scleroderma show some early thickening and hardening of the skin, especially of the hands, arms and/or face. This is due to the increased production of fibrous scar tissue. Widespread skin involvement more often results in severe internal organ damage than in patients with less skin involvement.
Usually, the skin on the fingertips tightens first, then progresses to the fingers, hands, forearms, and upper arms. By the time the skin of the arms is tight, there may be stiffness of the legs, thighs, and in some cases, chest and abdomen. The skin tightness usually appears on both sides of the body and is symmetrical. The skin of the face and neck may also become involved. See Scleroderma Photos.
(1) Paper for ACR criteria: Subcommittee for Scleroderma criteria of the American Rheumatism Association diagnostic and therapeutic criteria committee. 1980. Preliminary criteria for the classification of systemic sclerosis (Scleroderma). Arthritis Rheum. 23,581:590.
(2) Paper for LeRoy's criteria: Kahaleh MB, Sultany GL, Loadholt CB, Smith EA, Huffstutter JE, and LeRoy EC. 1986. A modified Scleroderma skin scoring method. Clinical & Experimental Rheumatology. (4):367-369.
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