Scleroderma

Scleroderma is an uncommon disease that results in hard, thickened areas of skin and sometimes problems with internal organs and blood vessels.

Introduction

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 with a range of different treatments. Treatment may not even be needed for the milder forms of the disease.

This page explains:

Types of scleroderma and typical symptoms

There are two main types of scleroderma:

  • localised scleroderma, which just affects the skin
  • systemic sclerosis, which affects the 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. The internal organs are not affected.

Exactly how the skin is affected depends on the type of localised scleroderma. There are two types, which are summarised as follows:

Morphoea:

  • oval skin patches, which are usually itchy
  • often only a few patches
  • can affect skin anywhere on the body
  • patches may be lighter or darker than normal skin and hairless
  • patches may fade after a number of years
  • treatment may not be needed

Linear:

  • thickened skin occurs in lines (like a knife wound) 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
  • also affects underlying bone and muscle
  • can lead to growth problems in children
  • may cause deformity

Systemic sclerosis

In systemic sclerosis, the internal organs are affected as well as the skin. Most people with systemic sclerosis have problems with their gut, such as heartburn and swallowing problems.

The skin becomes puffy and thickens, which can restrict joint movement. The fingers and toes may start to swell like sausages, before the skin becomes hard and tight. The 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 (broken blood vessels) on the face, hands and arms

Systemic sclerosis most commonly occurs in adults aged between 25 and 55. Children are rarely affected.

There are two types of systemic sclerosis. These are:

Limited systemic sclerosis:

  • a milder form of systemic sclerosis, which progresses slowly
  • often starts as Raynaud's disease (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, and then the disease settles and the 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 blood it doesn't recognise, and dies down when the infection has been cleared.

It is thought that scleroderma happens because the immune system has become overactive and the body starts to attack its own connective tissue. This causes cells in the connective tissue to produce too much collagen, causing fibrosis (scarring and thickening) of the tissue.

It's not certain exactly why this happens in people with scleroderma. Genes are probably involved, although scleroderma is not regarded an 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 body attacking its own tissues. These are collectively known as autoimmune diseases.

How scleroderma is treated

The aims of treatment are 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.

Many different types of medicines may be needed. For example:

  • immunosuppressants such as cyclophosphamide and methotrexate may be taken to suppress the immune system and slow the progression of the disease
  • high doses of steroids may lessen or slow down the 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 doctor 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 to keep muscles supple and stretching exercises can help to loosen tight skin.

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

If you're affected by Raynaud's disease, 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.

Content supplied by NHS Choices