Scleroderma

Scleroderma is an uncommon disease that results in hard, thickened areas of skin and sometimes problems with internal organs and blood vessels. There's no cure, but most people can lead a full, productive life.

Scleroderma is an autoimmune condition, which means the body attacks its own tissues. In the case of scleroderma, the connective tissue underneath the skin and surrounding internal organs and vessels is affected. This causes scarring and thickening of the tissue in these areas.

Depending on the type of disease, the skin may be affected by a few thickened oval patches that can occur anywhere on the body, or there may be lines of thickened skin across the face, scalp, forearms or legs.

Other possible symptoms of scleroderma depend on which internal organs, if any, are affected.

The symptoms of scleroderma can usually be controlled by a range of different treatments. For milder forms of the disease, treatment may not even be needed.

This page explains:

Types of scleroderma and typical symptoms

There are two main types of scleroderma:

localised scleroderma, which affects just the skin
systemic sclerosis, which may affect blood circulation and internal organs, as well as the skin

Localised scleroderma

Localised scleroderma is the mildest form of the disease and can occur at any age. The disease just affects the skin, causing one or more hard patches. Internal organs are not affected.

Exactly how the skin is affected depends on the type of localised scleroderma. There are two types:

Morphoea:

small oval skin patches
usually itchy
can affect skin anywhere on the body
patches may be hairless and/or lighter/darker than normal skin
patches may fade after a few years
treatment may not be needed

Linear:

thickened skin occurs in lines across the face or scalp, leg or arm
children commonly have a thickened line of skin down their leg
lines persist for longer than morphoea patches
occasionally affects underlying bone and muscle
can lead to growth problems in children
may cause deformity

Systemic sclerosis

In systemic sclerosis, internal organs can be affected, as well as the skin. Many people with systemic sclerosis have problems with their gut, such as heartburn, and problems swallowing (dysphagia).

Skin becomes puffy and thickens, which can restrict joint movement. Fingers and toes may start to swell like sausages, before the skin becomes hard and tight. Facial skin also becomes tight, especially around the mouth.

Other general symptoms may include:

hair loss
weight loss
fatigue
joint pain and stiffness
red spots (dilated blood vessels) on the face, hands and arms

Systemic sclerosis most commonly occurs in adults aged between 30 and 50 and affects women more than men. Children are rarely affected, and only around 10% of children with scleroderma develop systemic sclerosis.

There are two types of systemic sclerosis. These are:

Limited cutaneous systemic sclerosis:

a milder form of systemic sclerosis, which progresses slowly
often starts as Raynaud's phenomenon (a circulation problem where fingers and toes turn white in the cold)
other typical symptoms are thickening of the skin over the extremities and face, red spots (dilated blood vessels) on the skin and hard lumps of calcium underneath the skin (especially the fingertips)

Diffuse systemic sclerosis:

skin changes can affect the whole body
symptoms come on suddenly and get worse quickly over the first few years; then the disease settles and skin may improve

In some cases of systemic sclerosis, the heart, lungs or kidneys are affected. This can cause a range of symptoms such as shortness of breath, high blood pressure and pulmonary hypertension (high blood pressure in the lungs).

If the bowel is affected, it can lead to diarrhoea, constipation or faecal incontinence (leaking of stools).

Causes of scleroderma

Normally, the body's immune system fights off any bacteria or viruses that infect the body by releasing white blood cells into the blood to isolate and destroy the germs. The immune system responds like this to anything in the body it doesn't recognise, and settles down when the infection has been cleared.

It is thought scleroderma occurs because part of the immune system has become overactive and out of control. This leads to cells in the connective tissue producing too much collagen, causing fibrosis (scarring and thickening) of the tissue.

It's not clear why this happens to people with scleroderma. Genes are thought to be involved, although scleroderma is not regarded as an inherited disease and cannot be passed on to relatives.

There are many similar diseases, such as rheumatoid arthritis and lupus, that are caused by the immune system. These are collectively known as autoimmune diseases.

How scleroderma is treated

The aim of treatment is to relieve symptoms, prevent the disease getting worse, detect and treat any complications (such as pulmonary hypertension) and minimise disability through occupational therapy and physiotherapy.

Different medicines may be needed, such as:

medication to improve circulation
immunosuppressants such as cyclophosphamide and methotrexate may be taken to suppress the immune system and slow the disease's progression
high doses of corticosteroids may lessen or slow down damage to the skin and organs
different medicines may be needed to control the various symptoms (such as heartburn, constipation and high blood pressure)

Physiotherapy and stretching exercises are important, as is regularly moisturising any tight skin. Your physiotherapist, skin specialist or GP will advise you.

If symptoms are severe, surgery may be needed. For example, lumps of calcium under the skin may need to be removed, and tightened (contracted) muscles may need to be released.

Newer treatments such as laser therapy and photodynamic therapy are currently being trialled (see Scleroderma clinical trials), and may improve the outcome of the disease for many people.

Living with scleroderma

There are many lifestyle changes you can make to lessen the impact of scleroderma on your life.

Regular physiotherapy can help keep muscles supple, and stretching exercises may help loosen tight skin.

If necessary, an occupational therapist will make adaptations to your home and advise on equipment to make daily life easier.

If you're affected by Raynaud's phenomenon, you will need to keep your hands and feet warm in the cold by wearing thick gloves and socks. Read about the treatment and management of Raynaud's.

You will also need regular blood pressure checks and tests for organ problems.

It's important to eat healthily, exercise regularly and quit smoking (if you smoke) to keep blood pressure under control. Learn more about controlling high blood pressure.

Many people find it helps to read up on the condition and talk to other people who are affected. The Scleroderma Society and the Raynaud’s and Scleroderma Association offer information and support.