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| Systemic Sclerosis (Scleroderma) |
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Systemic Sclerosis: Diffuse Scleroderma |
| This page was written by Shelley Ensz, and medically edited by Dolores Vázquez-Abad, M.D.. See Disclaimer. |
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| What is Diffuse Scleroderma? |
| 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). |
| 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. |
| Diagnosis |
| Specific Proteins Identified in Whole Saliva from Patients with Diffuse Systemic Sclerosis (SSc). It is possible that some of them (whole saliva proteins) can be defined as new therapeutic targets or diagnostic markers for SSc disease. J Rheumatol 2007;34:2063-9. |
| 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: |
| 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, and requires no laboratory or special testing. |
| Diffuse Scleroderma Without Skin Involvement |
| 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)." |
| The many faces of scleroderma sine scleroderma: a literature review focusing on cardiopulmonary complications. Scleroderma sine scleroderma is an occult form of systemic sclerosis that may cause diagnostic difficulties due to the absence of skin involvement. Delays in the diagnosis of ssSSc means lost opportunites to address and treat the often lethal involvement of internal organs such as the lungs and heart. Overall the clinical presentation is subtle and heightened clinical awareness is required to facilitate prompt recognition and treatment. Toya SP. (PubMed) Rheumatol Int. 2009 Feb 27. |
| Systemic sclerosis sine scleroderma associated with Wolff-Parkinson-White (WPW) syndrome. This case highlights cardiac arrhythmia caused by WPW syndrome as a clinical manifestation of the heart in ssSSc. PubMed. Scand J Rheumatol. 2007 Jan-Feb;36(1):68-70. (Also see: Cardiac Involvement) |
| Unique characteristics of systemic sclerosis sine scleroderma-associated interstitial lung disease. In the presentation of an idiopathic interstitial pneumonia, the presence of a nucleolar-staining ANA, telangiectasia, Raynaud phenomenon with abnormal capillaroscopy findings, gastroesophageal reflux, or pericardial disease suggests underlying systemic sclerosis.. PubMed. Chest. 2006 Oct;130(4):976-81. (Also see: Pulmonary Fibrosis, and Pulmonary Involvement) |
| Scleroderma-clinical and pathological advances. Skin sclerosis is no longer regarded as mandatory for the diagnosis of systemic sclerosis. It is likely that clinical trials performed over the next few years will transform the management of systemic sclerosis and help to dispel its reputation as one of the least treatable of the autoimmune rheumatic diseases. PubMed. Best Pract Res Clin Rheumatol. 2004 Jun;18(3):271-90. (Also see: Limited Scleroderma, and Prof. Carol Black) |
| 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.) |
| 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 and Treatments. |
| Oral complaints in progressive systemic sclerosis: two cases report. Aesthetic and facial dysfunction are followed by important oral and facial manifestation of disturbances such as xerostomia, the lack of saliva in the mouth, and its associated complications. (PubMed) Med Oral Patol Oral Cir Bucal. 2008 Feb 1;13(2):E114-8. (Also see: Dental Involvement) |
| Skin Thickness Progression Rate (STPR) in Systemic Sclerosis with Diffuse Cutaneous Involvement: A Predictor of Outcome. Rapid STPR at first evaluation in early dcSSc patients is a predictor of both internal organ involvement at one year after onset of skin thickening and 5 year mortality. Assessment of individual risk in dcSSc patients and planning of clinical trials involving these patients should include evaluation of STPR. (Also see: Mortality and Prognosis and Skin Fibrosis). |
| Kidney crisis in systemic sclerosis. This occurs in the group of patients with rapid and aggressive course of the disease, often after several years of the ailment and with the diffuse form. Scleroderma renal crisis (SRC) is most frequently characterized by malignant hypertension, renal insufficiency, and less often by the symptoms of microangiopathic hemolytic anemia. PubMed. Rocz Akad Med Bialymst. 2005;50 Suppl 1:294-6. (Also see: Renal Involvement) |
| Prevalence of Elevated Pulmonary Arterial Pressures Measured by Echocardiography in a Multicenter Study of Patients with Systemic Sclerosis. Elevated pulmonary arterial pressures (PAP) are common in both limited and diffuse SSc disease, occurring in 21% of limited and 26% of diffuse SSc patients. A high index of suspicion is important and routine echocardiography in symptomatic patients may allow earlier diagnosis of PAH and intervention. J Rheumatol. 2005 July;32:1273-8. (Also see: Pulmonary Hypertension, Diffuse Scleroderma, and ISN Medical Advisory Board: Dr. Janet Pope) |
| Kidney disease other than renal crisis in patients with diffuse scleroderma. Patients with diffuse scleroderma but without renal crisis rarely have significant increases in serum creatinine or proteinuria that cannot be explained by other etiologies. These patients should be carefully evaluated for non-scleroderma causes of kidney disease. J Rheumatol. 2005 Apr;32(4):649-55. (Also see: Kidney Involvement) |
| 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. |
| Using a self-reported functional score (FS) to assess disease progression in systemic sclerosis (SSc). The FS is a disease-specific, inexpensive and practical instrument for assessing functional status in SSc. It is a promising self-administered assessment tool for use in evaluating new SSc treatments. Rheumatology Volume 46, Number 7 Pp. 1107-1110. (Also see: Limited Scleroderma, and CREST) |
| Anti-neutrophil cytoplasmic autoantibody-associated rapid progressive glomerulonephritis complicated with both limited and diffuse scleroderma. PubMed. Nihon Rinsho Meneki Gakkai Kaishi 2002 Dec;25(6):473-9 (Also see: Limited Scleroderma) |
| Treatment |
| Scleroderma Treatments and Clinical Trials. ISN. |
 Scleroderma Care and Research Journal (PDF) This inaugural issue for physicians focuses on elevating the standards of care for scleroderma lung involvement. Articles include Interstitial Lung Disease in Systemic Sclerosis: Optimizing Evaluation and Management, as well as Pulmonary Hypertension Related to Systemic Sclerosis: A Primer for the Rheumatologist. Journal of the Scleroderma Clinical Trials Consortium (SCTC) Vol 1, No. 1, Autumn 2003 (Also see: Pulmonary Fibrosis and Pulmonary Hypertension) |
| High dose cyclophosphamide without stem cell rescue in scleroderma. High dose cyclophosphamide without stem rescue can lead to clinically significant improvement in skin score and measures of disease severity in patients with diffuse cutaneous scleroderma. PubMed. Ann Rheum Dis. 2007 Nov 1. (Also see: Clinical Trials, and Medications) |
| 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 Patient and Caregiver Story Listings... |
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