Familial Progressive Scleroderma

Alternative Names

  • Systemic Sclerosis, Susceptibility to
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WHO-ICD-10 version:2010

Diseases of the skin and subcutaneous tissue

Other disorders of the skin and subcutaneous tissue

OMIM Number

181750

Mode of Inheritance

Sporadic, Autosomal dominant

Description

Systemic sclerosis (SSc), also known as scleroderma is an autoimmune disorder, generalized of small arteries, microvessels and connective tissue. It is characterized by a buildup of scar tissue (fibrosis) in the skin and organs, particularly the lungs, heart, and digestive tract. The prevalence is estimated at about 1/6,500 adults, with women being four times more likely to develop the condition than men. Systemic sclerosis usually appears in women aged 30-40 years, and it occurs in slightly older men. Raynaud's phenomenon is usually the first sign of all types of disease, and other sings may occur weeks to years later. There are three types of scleroderma, diffuse cutaneous, limited cutaneous and limited Systemic Sclerosis or Systemic sclerosis sine scleroderma. The Limited systemic scleroderma type fibrosis usually affects only the hands, arms, and face. Common symptoms of this condition include calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. It was named CREST syndrome according to these features. In the cutaneous systemic scleroderma, the fibrosis affects larger areas of skin, including the torso and the upper arms and legs, and often involves internal organs. In this type, the disease worsens quickly and causes organ damage that occurs earlier than in other types. In the systemic sclerosis sine the fibrosis affects one or more internal organs, but not the skin.

Diagnosis of systemic sclerosis is based on the clinical manifestations and on evidence of specific microangiopathy with giant loops on capillaroscopy. Blood tests could be done for the presence of the antinuclear autoantibodies. In order to diagnose disease progression, computed tomography (CT), electrocardiogram, echocardiography, radiography of the hands and esophageal and gastric fibroscopy should be done. There is no specific treatment for scleroderma. Management is mostly symptomatic. Some of the medicines that treat scleroderma include calcium channel blockers for Raynaud's phenomenon, corticosteroids, drugs that suppress the immune system such as methotrexate and Cytoxan, and nonsteroidal anti-inflammatory drugs (NSAIDs).

There are some candidate genes that may influence the risk of developing systemic sclerosis. Some genes were found to be associated with the disease, including HLA, IRF5, and STAT4. While most cases of systemic sclerosis are sporadic, some cases have been reported to run in families.

Epidemiology in the Arab World

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Other Reports

Iraq

Al-Adhadh and Al-Sayed (2001) conducted a study in order to find out the clinical and epidemiological pattern of systemic sclerosis among Iraqi patients. A total of 75 patients were included in the study (67 females and eight males), from March 1997 till December 1999. Eight patients were Kurdish (one male and seven female) and the rest were Arabs. Raynaud's phenomenon was found in all patients, with arthralgia, dysphagia, atrophic changes or hypo/hyperpigmentation being the most common symptoms among patients, while telangiectasia, subcutaneous calcification, hypertension were found in some of the patients and one patient had severe hypertension. Rheumatoid factor was positive in 17 patients, while antinuclear antibody was positive in 50 patients. It was found that systemic sclerosis is not a rare disease among the Iraqi population with a peak age of onset at 20-40 years.

Morocco

Admou et al. (2007) conducted a retrospective survey to assess the prevalence of autoantibodies during scleroderma within a Moroccan population. The study included 272 patients [220 cases of systemic sclerosis, 45 cases localized scleroderma and seven cases of mixed connective tissue disease (MCTD)] underwent a screening for antinuclear antibodies (ANA) by indirect immunofluorescence (IFI) on Hep-2 cells, followed, in 127 cases, by anti-extractable nuclear antigen (ENA) antibodies identification using a double immunodiffusion (IDD) method. Sixty eight percent of patients presenting with a systemic sclerosis had positive ANA whose identification revealed: 23 cases (15%) of anti-topoisomerase I, eight cases (5%) of anti-centromere (ACA) and five cases (3%) of anti-U1-RNP antibodies. Out of the eight cases of ACA, three corresponded to a CREST syndrome. Anti-topoisomerase I antibodies were observed in two of the four patients having an interstitial pulmonary syndrome. Anti-U1-RNP antibodies were present in 3/38 patients (8%) having a systemic sclerosis associated to arthritis. 4/45 patients (9%), presenting with a localized scleroderma, had positive ANA, of which two were ACA. All patients admitted for MCTD had anti-U1-RNP antibodies, coexisting with anti-Sm antibody in two cases.

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