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Systemic Sclerosis: Diffuse Scleroderma

Author: Shelley Ensz. Scleroderma is highly variable. See Types of Scleroderma. Read Disclaimer
Video Overview
Nomenclature
Causes
Diagnosis
Sine: Without Skin Fibrosis
Complications
Progression
Treatment
References
Patient Stories

Video Overview

Overview of Diffuse Scleroderma Video
Video: Diffuse Scleroderma

Presented by Amanda Thorpe
*More Sclero Videos*

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)

Nomenclature

We usually just call it diffuse 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

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)

Diagnosis

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)

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 (ssSSc): a multicenter study of 1417 subjects. This is most likely a forme fruste of limited scleroderma. The absence of skin involvement may in part be related to misclassification arising from early or subtle skin involvement. There is little evidence to consider ssSSc as a distinct clinical or serological subset of SSc. PubMed, J Rheumatol, 2014 Nov;41(11):2179-85.

Systemic sclerosis sine scleroderma (ssSSc) and limited cutaneous systemic sclerosis (lcSSc): Similarities and differences. ssSSc and lcSSc patients share demographic, clinical and immunologic features although differences are mainly due to peripheral vascular manifestations. ssSSc patients should be truly differentiated from early SSc using sensitive and specific studies looking for any asymptomatic organ involvement. PubMed, Clin Exp Rheumatol, 2014 Apr 28. (Also see Limited Scleroderma)

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.

Systemic sclerosis sine scleroderma: distinct features in a large Brazilian cohort. Among the 947 consecutive patients with SSc, 79 (8.3%) were classified as ssSSc. Oesophagus was the most frequently affected organ (83.1%), followed by pulmonary involvement (63.2%). Oxford Journals. August 2012.

Complications

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.

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.

Treatments and Clinical Trials

Scleroderma Treatments and Clinical Trials. ISN.

References

(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.

Diffuse Scleroderma Patient & Caregiver Stories

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...

More Diffuse Scleroderma Stories...

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