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Systemic Sclerosis (Scleroderma)

Introduction

Systemic sclerosis aka Scleroderma is an autoimmune connective tissue disorder. Other similar diseases include SLE, RA, Sjogren’s syndrome and mixed connective tissue disease. There is a lot of overlap in the symptoms of these diseases. Many will require immunosuppressive therapy.
Systemic sclerosis is sometimes referred to as CREST. This is a mnemonic you can use to remember some of the main symptoms of the disorder:
You might also here systemic sclerosis referred to ‘scleroderma’.
There are two main types of systemic sclerosis:

Limited cutaneous scleroderma – aka scleroderma – in this variation, the signs are mostly confined to the hands, arms and face – i.e. mostly to the skin. In 80% there is also pulmonary hypertension.

Diffuse cutaneous scleroderma – aka systemic sclerosis – tends to be more rapidly progressing and severe. Affects larger areas of the skin, and there is multi-systemic involvement. Can be life-threatening, e.g. if the heart/lungs/liver/kidneys become involved.

Epidemiology / Aetiology

Pathology

Clinical features

Sclerodactyly – thickening of the skin
Skin pigmentation changes – commonly a loss of pigment around the affected areas, but there may also be patches of hyperpigmentation.
Calcinosis of the fingertipscalcium deposits at the fingertips. You may see these at little pits near the finger tips (digital pitting), and they are often visible as white dots around the distal phalanges on radiograph.
Raynaud’s phenomenon the result of vascular spasms that reduce the blood supply to the fingers, usually when the hands get cold. The phenomenon may also be triggered by emotional stress. There is a classic pattern of colour change – the fingers will go white, then blue, then as they warm up, or the episode passes, they will become red. The red part of the cycle is the result of hyperaemia that occurs after a period of reduced blood flow. The episodes are often painful.

Secondary disease is what we see when it is related to connective tissue disease. This is often asymmetrical, and extremely painful. There may be associated ulceration, tissue necrosis, and gangrene.

It is important to remember when asking about this in the history that everybody’s fingers will turn white/blue if they are cold for long enough! You need to find out if they think these changes are abnormal, and often there may be a clear horizontal line across the fingers where the colour changes appear.
It commonly occurs in association with connective tissue disorders, but it can be idiopathic, and occur in isolation, or in association with other disorders, or as the result of medications (e.g. β-blockers). It also occurs in pregnancy.

Treatment

General features of connective tissue disease

If you are a bit stuck when taking a history, going through a systems review is likely to yield lots of useful information in a patient with connective tissue disease

Investigations

Treatment

Organ complications are managed individually. Treatment for the organ involvement has come a long way in the last 20 years, and has dramatically improved survival. However, scleroderma is still one of the least treatable rheumatological conditions.

Specific organ treatments

You should also monitor annually, e.g. with:

Immunosu​ppressive therapy

This may be used in those with more aggressive disease. This may involve therapies such as IV cyclophosphamide during flare-ups, to try and induce remission.

Mixed Connective Tissue Disease

This often presents with a combination of symptoms from:
Some clinicians still argue over whether it is actually a separate diagnosis

Flashcard

References

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