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.
Systemic Sclerosis