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Scleroderma: Symptoms, diagnosis and treatment

Scleroderma is a fairly rare condition causing areas of skin to become hard and thick, which may also affect internal organs.

Scleroderma is an autoimmune condition in which the body's defences wrongly turn on its own skin and tissue.

Scleroderma_getty.jpg

Image: Picture of patient with scleroderma
Credit: Biophoto Associates, Collection: Photo Researchers

According to the Scleroderma Society, around 1 in 10,000 people in the UK have scleroderma. It affects four times as many women as men. Scleroderma is usually diagnosed between 25 and 55 but all age groups can be affected.

Tiny blood vessels throughout the body also may be affected, causing widespread damage to internal organs. Although the disease usually affects the hands, face, and feet, impaired blood flow can eventually injure the body's digestive, respiratory, and circulatory systems.

Scleroderma can look very different in different people. There are many subtypes of this condition. Doctors generally classify scleroderma as either localised, where only the skin is affected, or systemic where other organs of the body and the blood vessels are involved. The widespread form of the disease is often called systemic sclerosis and can be life-threatening.

Women with scleroderma may have difficulty getting pregnant and may have a slightly increased risk of giving birth prematurely and of miscarriage.

What causes scleroderma?

The main feature of scleroderma is excessive production of collagen. Collagen is one of the building blocks from which skin is made. Usually, it makes the skin supple. But when too much collagen accumulates, it causes various tissues to become thick and lose flexibility.

The underlying cause of scleroderma remains unclear. For some unknown reason, the immune system turns against the body and results in the overproduction of collagen. Current research focuses on the interplay between the immune system, the vascular (blood vessel) system, and the growth of connective tissue. It can run in families, but genes related to this remain unknown.

Scleroderma symptoms

The symptoms of scleroderma vary widely among individuals. The most common symptom is tightening, hardening, or thickening of the skin on the arms, legs, hands, feet, and face. The skin continues to thicken during the first two to three years of the disease. Thickening then ceases and may even recede.

Symptoms of scleroderma may include:

  • Gradual tightening and thickening of the skin.
  • Swelling, stiffness, or pain in the fingers, toes, hands, feet, or face.
  • Tingling, numbness, or puffiness of the skin.
  • Skin discolouration.
  • Small white bumps under the surface of the skin.
  • Cold sensitivity and an intermittent and transient whitening of one or more of the digits, often associated with pain in the affected fingers (called Raynaud's phenomenon).
  • Red spots on the fingers, palms, face, lips, or tongue, from permanently dilated tiny blood vessels (called telangiectasias).
  • Ulcers or sores on fingertips, knuckles, or elbows.
  • Loss of the skin's ability to stretch.
  • Itching.
  • Fatigue.
  • Curling of the fingers.
  • Digestive problems such as  heartburn, trouble swallowing, or delayed movement of food due to impaired muscle activity in the intestines.
  • Loss of hand function because of skin tightening on fingers and hands.
  • Shortness of breath, possibly from heart or lung damage.
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