Scleroderma is an autoimmune disorder in which the skin and connective tissues tighten and harden. There are various types of scleroderma. It is a long-term, progressive disease that gradually gets worse.
Scleroderma happens when the immune system becomes overactive and produces too much collagen, the protein that forms the basis of connective tissue. The result is 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.
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.
According to Johns Hopkins Medicine, fewer than 500,000 people in the United States have scleroderma. It is rare in children, and it is four times more common in females than males. It is most likely to appear between the ages of 20 and 50 years.
Contents of this article:
Types and symptoms of scleroderma
Raynaud's disease is a common symptom of scleroderma.
Scleroderma refers to a range of conditions, which can be localized or 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, and it does not affect the internal organs. There are two types: Morphea and linear scleroderma.
Symptoms of morphea include oval-shaped patches of lighter or darker, which may be itchy, hairless, and shiny. The shapes have a purple border, and they are white in the middle.
People with linear scleroderma may have bands or streaks of hardened skin on the head, face, and limbs. It can affect bones and muscles.
Systemic scleroderma affects the circulation of the blood and the internal organs. There are several types of systemic scleroderma.
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 lungs and the digestive system.
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.
One type of limited scleroderma 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
In diffuse systemic sclerosis, the skin can change in any part of the body, and the internal organs are more likely to be affected.
People with systemic types of scleroderma may experience weakness, fatigue, and weight loss.
Causes and risk factors for scleroderma
It is not known what causes scleroderma. 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.
Scleroderma may be difficult to diagnose because it develops gradually and appears in different forms. Its symptoms, such as GERD and Raynaud's disease, are also common in the general population.
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:
- A skin microscope to look for changes in the tiny blood vessels, or capillaries, around the finger nails
- Skin biopsy
- Blood test to assess the levels of certain antibodies.
The physician may also check for lung, heart, or gastrointestinal complications.
Treatment for scleroderma
There is currently no cure for scleroderma, and no medication can stop the overproduction of collagen, but organ system complications can be treated.
Localized scleroderma may resolve on its own. Some medications may help to 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 medications may help to 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 to manage pain, improve mobility, and improve strength. Aids, such as splints, may help with daily tasks.
Ultraviolet light therapy and lasers surgery may help improve the condition and appearance of the skin.
Complications of scleroderma
The complications of scleroderma range in severity from mild to life-threatening.
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. Amputation may be necessary.
Circulatory problems can lead to gangrene.
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.
Improving quality of life for patients with scleroderma
The Scleroderma Research Foundation offers a number of tips to help patients with scleroderma to cope. These include:
- 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.