ssc

Systemic Sclerosis

Introduction

Systemic sclerosis (SSc; scleroderma) affects the skin and multiple internal organs leading, eventually, to fibrosis. SSc is a clinically heterogeneous, multi-system autoimmune disorder. Patients with SSc may have inflammation, micro vascular disease and fibrosis1 affecting the skin, oesophagus, respiratory tract, kidneys and other target organs.

Scleroderma is an autoimmune condition, which means the body attacks its own tissues. The connective tissue under the skin and organs gets involved resulting in scarring and thickening. The skin may be affected by few oval patches. Other symptoms are based on different internal organs. They can be controlled but cannot be cured.

Disease prevalence

Onset of systemic sclerosis is highest in the fourth and fifth decade of life2 and is 4 times more common in women than men. Children are rarely affected, and only around 10% of children with scleroderma develop systemic sclerosis. This is not linked to race, season, geography, occupation or socioeconomic status. 

Causes

Normally the body’s immune system attacks any bacteria and viruses that infect the body by releasing white blood cells in to the blood and destroy the germs. It is thought scleroderma occurs because part of the immune system has become overactive and out of control. This causes too much collagen production from the connective tissue causing fibrosis of the tissue. It is not clear why this happens to people with scleroderma.

Symptoms

In this condition, patients may have heart burn, difficulty in swallowing, puffy fingers and sausage like swelling with tight skin (facial skin around the mouth too). Other symptoms may include hair loss, fatigue, joint pain, weight loss, and red spots on the skin2. 

Based on the extent of skin involvement three different types have been described-diffuse cutaneous sclerosis (dcSSc), limited cutaneous sclerosis (lcSSc) and SSc sine scleroderma (no skin involvement). 

One form is limited to skin and often starts with Raynaud’s phenomenon (cold fingers and toes), other symptoms include red spots in skin and lumps of calcium underneath the skin (finger tips). The other form is diffuse pattern with symptoms all over the body and many internal organs. There is a rare variant where no skin involvement occurs but only organs affected.

Tests

Bloods like blood count, ESR, CRP, liver and kidney function tests, urine PCR, ECG, chest x-ray and ANA profile are common tests used to confirm this disease.

Treatment

The aim of treatment is to relieve the symptoms and prevent any complications from the disease and minimise disability. If symptoms are severe, then surgery may be needed. The cutaneous telangiectasias can be treated. Pulsed dye laser (PDL)3 and intense pulsed light (IPL) may be used, both being effective, although the former produces a better cosmetic result.

Different medications may be needed to control the disease such as corticosteroids in low dose, vasodilators to improve blood flow to the peripheries, cyclophosphamide to improve the lung function and to stabilise the lung fibrosis, warfarin and oxygen in pulmonary hypertension,  and analgesics to reduce the pain and swelling in the hands.

Historical information

The relationship of scleroderma to Raynaud's phenomenon was first described by Maurice Raynaud himself in 18654 and was a well accepted association by the turn of the century. In 1945, Goetz proposed the term progressive systemic sclerosis based on his detailed review of the visceral lesions5. Acceptance of the syndrome of limited scleroderma followed Winterbauer's 1964 description of what subsequently became termed 'CREST syndrome' (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia)6.

References

1. Silver RM. Clinical aspects of systemic sclerosis (scleroderma). Ann Rheum Dis. 1991;50 Suppl 4:854-61.

2. Krishnamurthy V, Porkodi R, Ramakrishnan S, Rajendran CP, Madhavan R, Achuthan K, Parthiban M, Chandrasekaran AN. Progressive systemic sclerosis in south India. J Assoc Physicians India. 1991;39:254-57.

3. Tawfik AA, Shokir H, Soliman M, Salah L et al. Pulsed dye laser in the treatment of localized scleroderma and its effects on CD34+ and factor XIIIa+ cells: an immunohistochemical study. Am J Clin Dematol 2013;14:235-41.

4. Belch JJ et al. The phenomenon, syndrome and disease of Maurice Raynaud. Br J  Rheumatol 1990; 29:162-65.

5. Goetz RH. Pathology of progressive systemic sclerosis (generalized scleroderma) with special reference to changes in the viscera. Clin Proc S Afr. 1945; 4:337-342.

6. Dellipiani A W, George M. Syndrome of sclerodactyly, calcinosis, Raynaud’s phenomenon and telengiactasia. Br Med J. 1967; 4:334–335.

Contributor:

N Subramanian MD, MRCP

Velammal Medical College Hospital and Research Institute 

Madurai, Tamil Nadu, India.

Reviewer: 

Mohammad Khan MD, PhD

Children's Hospital of Philadelphia

University of Pennsylvania, Philadelphia, PA, USA