Sine: Without Skin Fibrosis
Diffuse scleroderma is a type of systemic sclerosis (scleroderma).
Systemic scleroderma can affect any part of the body. It often affects the skin, blood vessels, and internal organs, especially the lungs, heart, kidneys, and gastrointestinal tract. (Also see: Scleroderma Symptoms)
It is generally distinguished from limited systemic scleroderma by more widespread skin involvement, meaning that the skin thickening may also spread to the upper limbs or torso. (Also see: Limited Scleroderma)
It is also variously referred to as diffuse systemic sclerosis, diffuse sclerosis, diffuse cutaneous systemic sclerosis (dcSSc), and progressive systemic sclerosis (PSS). And so on and so forth.
Subsets include Scleroderma sine Scleroderma (which means diffuse scleroderma without skin involvement), and a rare variant called Familial Progressive Systemic Sclerosis (FPSS). (Also see What is Scleroderma? and Types 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. ISN. (Also see Cancer and Scleroderma)
Diffuse systemic sclerosis 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 for proximal.
1. The American College of Rheumatology defines proximal tight skin as skin tightness above the wrists. (1)
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, which means that it is based on symptoms, and not on blood work.
Although certain blood tests may be helpful for confirming the already-made clinical diagnosis or suggesting a proclivity for specific complications, they should not be relied on to solely rule out — nor diagnose — any form of systemic scleroderma. (Also see Diagnosis of Scleroderma)
Factors influencing early referral, early diagnosis and management in patients with diffuse cutaneous systemic sclerosis. More consistent use of the modified Rodnan skin score at diagnosis and follow–up may help to monitor disease progression. PubMed, Rheumatology (Oxford), 02/02/2018.
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.
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.
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.
Large-scale characterization of systemic sclerosis serum protein profile: Comparison to peripheral blood cell transcriptome and correlations with skin/lung fibrosis. Diffuse scleroderma has a distinct serum protein profile with prominent dysregulation of proteins related to fibrosis and immune cell adhesion/diapedesis. PubMed, Arthritis Rheumatol, 11/01/2020. (Also see Skin Fibrosis)
Predictors of disease worsening defined by progression of organ damage in diffuse systemic sclerosis (dSSc): a European Scleroderma Trials and Research (EUSTAR) analysis. The use of the predictive factors presented here could enable cohort enrichment with patients at risk for overall disease worsening in SSc clinical trials. PubMed, Ann Rheum Dis, 06/21/2019.
Estradiol (E2) levels are elevated in older men with diffuse cutaneous SSc and are associated with decreased survival. Our study expands on previous work implicating E2 in dermal fibrosis in SSc and associates E2 levels with internal organ involvement and survival. PubMed, Arthritis Res Ther, 2019 Apr 2;21(1):85.
Skin Gene Expression Is Prognostic for the Trajectory of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis. Skin gene expression of biomarkers may provide guidance in decision–making about which patients should be considered for aggressive therapies and/or for clinical trials. PubMed, Arthritis Rheumatol, 2018 Jun;70(6):912-919. (Also see Skin Fibrosis)
(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.
Amanda: Diffuse Scleroderma Systemic Sclerosis I am thirty-nine years old and was diagnosed with diffuse scleroderma systemic sclerosis in August 2007…
Ana Lucia: Diffuse Scleroderma I am twenty years old and I was diagnosed with diffuse systemic scleroderma a year and a half ago…
(Español/Spanish) Ana Lucia: Esclerosis Sistemica Difusa Estoy en tratamiento de corticoides. Y ciclofosfamida llevo un año y medio en hospitales he tenido que ingresar…
Anastasia: Surviving Granddaughter of a Diffuse Scleroderma Patient We went everywhere to figure out what she had but no one knew. Traveling to a different hospital finally we heard scleroderma…
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