Scleroderma refers to a range of disorders in which the skin and connective tissues tighten and harden. It is a long-term, progressive disease. This means it gradually gets worse.
It is considered a rheumatic disease and a connective tissue disorder. It is also thought to be an autoimmune condition, in which the body’s own immune system attacks the body’s tissues.
This results in an overproduction of collagen, the protein that forms the basis of connective tissue. The result is a thickening, or fibrosis, and scarring of tissue.
Scleroderma is not contagious. It may run in families, but it often occurs in patients without any family history of the disease. It ranges from very mild to potentially fatal. Up to 1 in 3 people with the condition develop severe symptoms.
It is thought to affect between 75,000 and 100,000 people in the United States, mostly women aged from 30 to 50 years.
Scleroderma means “hard skin.”
Early symptoms of scleroderma include changes in the fingers and hands, for example, stiffness, tightness, and puffiness because of sensitivity to cold or emotional stress.
There may be swelling in the hands and feet, especially in the morning.
Overall symptoms of scleroderma include:
- calcium deposits in connective tissues
- a narrowing of the blood vessels to the hands and feet, known as Raynaud’s disease
- problems of the esophagus, which links the throat and stomach
- tight, thickened skin on the fingers
- red spots on the face and hands
However, symptoms will vary according to the type and how it affects the person, and whether it affects one part of the body or a whole body system.
The two main types of scleroderma are localized and systemic.
Localized scleroderma mainly affects the skin, but it may have an impact on the muscles and bones.
Systemic scleroderma affects the whole body, including the blood and internal organs, and especially the kidneys, esophagus, heart, and lungs.
Localized scleroderma is the mildest form of scleroderma. It does not affect the internal organs. There are two main types: morphea and linear scleroderma.
Morphea: Symptoms include oval-shaped patches of lighter or darker skin, which may be itchy, hairless, and shiny. The shapes have a purple border, and they are white in the middle.
Linear scleroderma: There may be bands or streaks of hardened skin on the limbs, and rarely the head and face. It can affect bones and muscles.
Systemic scleroderma affects the circulation of the blood and the internal organs.
There are two main types:
- limited cutaneous systemic sclerosis syndrome, or CREST
- diffuse systemic sclerosis
Limited cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis is the least severe type of systemic scleroderma. It affects the skin on the hands, feet, face, and lower arms and legs. There may be problems with the blood vessels, lungs, and the digestive system.
It is sometimes known as CREST syndrome, because the symptoms form the acronym, CREST:
C: Calcinosis, or calcium deposits in tissues and under the skin
R: Raynaud’s disease
E: Esophageal problems, including GERD
S: Sclerodactyly, or thick skin on the fingers
T: Telangiectasias, or enlarged blood vessels, manifesting as red spots
The first sign is often Raynaud’s disease, in which blood vessels narrow in the hands and feet, leading to circulatory problems in the extremities. Patients may experience numbness, pain, and color changes in response to stress or cold.
The skin on the hands, feet, and face may start to thicken.
The impact on the digestive system can lead to difficulty swallowing and gastroesophageal reflux disease (GERD), or acid reflux.
The intestinal muscles may be unable to move food through the intestines properly, and the body may not absorb nutrients.
Some of these symptoms can have other underlying causes. Not everyone who has Raynaud’s disease or GERD will have scleroderma. Most do not.
Sclerodactyly: What it is, causes, and treatment
Find out more about sclerodactyly, which affects the fingers
Diffuse systemic sclerosis
In diffuse systemic sclerosis, the skin thickening usually affects the area from the hands to above the wrists. It also affects the internal organs.
People with systemic types of scleroderma may experience weakness, fatigue, difficulty breathing and swallowing, and weight loss.
It is not known what causes scleroderma, but it is thought to be an autoimmune condition that causes the body to produce too much connective tissue. This leads to a thickening, or fibrosis, and scarring of tissue.
Connective tissue forms the fibers that make up the framework that supports the body. They are found under the skin and around the internal organs and blood vessels, and they help support muscles and bones.
Genetic factors are thought to play a role, and possibly environmental factors, but this has not been confirmed.
People with scleroderma often come from families in which another autoimmune disease exists.
It is not contagious.
Scleroderma may be hard to diagnose because it develops gradually and appears in different forms, and because some of the symptoms, such as GERD, can occur in people without scleroderma.
The physician will carry out a physical examination and some tests. The patient may be referred to a rheumatologist, a specialist in joint and connective tissue diseases.
The following tests may be necessary:
- looking at the skin under a microscope to check for changes in the tiny blood vessels, or capillaries, around the finger nails
- skin biopsy
- blood tests to assess the levels of certain antibodies
The doctor will look for signs of skin thickening, GERD, shortness of breath, joint pain, and calcium deposits. They may also check for lung, heart, or gastrointestinal complications.
There is currently no cure for scleroderma, and no medication can stop the overproduction of collagen. However, organ system complications can be treated to minimize damage and maintain functionality.
Localized scleroderma may resolve on its own. Some medications may help control the symptoms and help prevent complications.
The aim will be to relieve the symptoms, to prevent the condition from worsening, or at least slow it down, to detect and treat complications as soon as possible, and to minimize disabilities.
Treatment depends on how the disease affects the individual.
Blood pressure medication may help dilate the blood vessels. This can reduce problems with the organs, such as the lungs and kidneys, and they can help to treat Raynaud’s disease.
Immunosuppressants may calm, or suppress, the immune system.
Physical therapy may help manage pain, improve mobility, and improve strength. Aids, such as splints, may help with daily tasks.
Ultraviolet light therapy and laser surgery may help improve the condition and the appearance of the skin.
Scientists are continuing to look for a treatment for scleroderma and are optimistic that a solution will be found.
The complications of scleroderma range in severity from mild to life-threatening. There is also an increased risk of cancer.
Movement may become restricted as the skin tightens and swelling occurs in the hands and fingers, and around the face and mouth. Joint and muscle movement may also become harder.
Raynaud’s disease can permanently damage the fingertips and toes, resulting in pits or ulcers in the flesh, and possibly gangrene, if severe. Amputation may be necessary.
Lung complications can cause breathing problems. High blood pressure in the artery that carries blood from the heart to the lungs, called pulmonary hypertension, can cause permanent lung damage. There may be failure of the right ventricle of the heart. A lung transplant may be needed.
Kidney damage can cause hypertension, or high blood pressure, and excess protein in the urine. Kidney failure is possible. Symptoms include headache, vision problems, seizures, breathlessness, swelling of the legs and feet, and reduced urine production.
Heart arrhythmias, or abnormal heartbeats and congestive heart failure may result from scarring of heart tissue. The patient may develop an inflammation or the lining around the heart, known as pericarditis. This causes chest pain and fluid build-up around the heart.
Dental problems can arise. If a tightening of facial skin makes the mouth smaller, even daily dental care can become more difficult. Dry mouth is common, increasing the risk of tooth decay. Acid reflux may destroy tooth enamel. Changes in gum tissue may cause teeth to become loose and fall out.
Sexual function is affected, and male erectile dysfunction is common. A woman’s vaginal opening may be constricted, and there may be decreased sexual lubrication.
The thyroid gland can become underactive. This is known as hypothyroidism, and it causes hormonal changes that slow down the metabolism.
Intestines may become underactive, resulting in bloating, constipation, and other problems. The esophagus may have problems moving solids and liquids into the stomach.
Most fatalities due to scleroderma are associated with lung, heart, and kidney problems.
Living with scleroderma can be challenging, depending on the type and the extent of the impact. There is no treatment at this time.
However, there are strategies to reduce some of the impact:
- eating smaller meals to reduce the impact of GERD
- keeping skin well moisturized and taking care to avoid finger injuries
- wrapping up warm to minimize circulatory problems
- doing appropriate exercise to ease stiffness
The Scleroderma Research Foundation offers a number of tips:
- avoiding tobacco, alcohol, caffeine, and recreational drugs
- getting enough sleep
- minimizing and stress and managing anxiety, for example, through yoga and meditation
- avoiding processed foods, sugar, and soda
Patients with scleroderma are also advised not to take echinacea, as it boosts the immune system. This can be harmful for people with an auto-immune disease.
There may be a psychological impact, especially if physical changes occur. The support of family and friends can be important to a person with scleroderma.
The Scleroderma Foundation can help you find advice and support.
The Scleroderma Education Project provides information about research and advances related to scleroderma.