Scleroderma Types, Symptoms, Causes, Risk Factors, Diagnosis, Treatments, Complications, FAQs

Scleroderma

Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs in addition to the skin.

Symptoms may include areas of thickened skin, stiffness, feeling tired, and poor blood flow to the fingers or toes with cold exposure. One form of the condition, known as CREST syndrome, classically results in calcium deposits, Raynaud’s syndrome, esophageal problems, thickening of the skin of the fingers and toes, and areas of small dilated blood vessels.

The cause is unknown; however, some suspect it may be due to an abnormal immune response. Risk factors include family history, certain genetic factors, and exposure to silica. The underlying mechanism involves the abnormal growth of connective tissue which is believed to occur as a result of the body’s immune system attacking healthy tissues. Diagnosis is typically based on a person’s symptoms and may be supported by a skin biopsy or blood tests.

While there is no cure, treatments may improve symptoms. Medications used include corticosteroids, methotrexate, and non-steroidal anti-inflammatory drugs (NSAIDs). Outcomes depend on the extent of disease. Those with the localized disease generally have a normal life expectancy. In those with systemic disease typical life expectancy is about 11 years from onset. Death is often due to lung, gastrointestinal, or heart complications.

Scleroderma types

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

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

Systemic scleroderma affects the circulation of the blood and 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.

Diffuse systemic sclerosis

In diffuse systemic sclerosis, the skin thickening usually affects the area from the hands to above the wrists. It also affects internal organs.

People with systemic types of scleroderma may experience weakness, fatigue, difficulty breathing and swallowing, and weight loss.

Scleroderma Symptoms

SS may only affect the skin in the early stages of the disease. You may notice your skin thickening and shiny areas developing around your mouth, nose, fingers, and other bony areas.

As the condition progresses, you may begin start to have limited movement of the affected areas. Other symptoms include:

• Hair loss
• Calcium deposits, or white lumps under the skin
• Small dilated blood vessels under the skin’s surface
• Joint pain
• Shortness of breath
• A dry cough
• Diarrhea
• Constipation
• Difficulty swallowing
• Esophageal reflux
• Abdominal bloating after meals

You may begin to experience spasms of the blood vessels in your fingers and toes. Then, your extremities may turn white and blue when you’re in the cold or feeling extreme emotional stress. This is called Raynaud’s phenomenon.

Who develops scleroderma, and when?
It’s estimated that about 300,000 Americans have scleroderma. About one-third of those people have the systemic form of scleroderma. Since scleroderma presents with symptoms similar to other autoimmune diseases, diagnosis is difficult. There may be many misdiagnosed or undiagnosed cases.

Localized scleroderma is more common in children, whereas systemic scleroderma is more common in adults. Overall, female patients outnumber male patients about 4-to-1. Factors other than a person’s gender, such as race and ethnic background, may influence the risk of getting scleroderma, the age of onset, and the pattern or severity of internal organ involvement. The reasons for this are not clear. Although scleroderma is not directly inherited, some scientists feel there is a slight predisposition to it in families with a history of rheumatic diseases.

However, scleroderma can develop in every age group from infants to the elderly, but its onset is most frequent between the ages of 25 to 55. When doctors say “usually” or “for the most part,” the reader should understand that variations frequently occur. Many patients get alarmed when they read medical information that seems to contradict their own experiences and conclude that what has happened to them is not supposed to happen. There are many exceptions to the rules in scleroderma, perhaps more so than in other diseases. Each case is different, and information should be discussed with your doctor.

Frequently Asked Questions (FAQ) about Scleroderma

What is scleroderma?

This is an autoimmune disease that is very heterogeneous with skin tightening or fibrosis which can affect different parts of the body –the hands, feet, face, neck, extremities or trunk. It can be associated with organ involvement as well which is varied depending on how long the disease has been present and what type of autoantibody is present. Patients have Raynaud’s phenomenon where there are color changes of the finger (or toes) with exposure to cold temperatures. A patient’s digits may turn white, blue and then red.

What does the word scleroderma mean?

The word scleroderma is composed of two parts which are of Greek origin-”sclero” means hard and “derma” means skin.

 Who can get scleroderma?

It is thought that patients who have certain types of genes when exposed to certain viruses or environmental agents, their genes transform and thus start the process of creating the changes in the skin and the internal organs.

Is scleroderma contagious?

No. Scleroderma is not a contagious disease.

 Is there a cure for scleroderma?

No, but there are ways to manage the different ways that the disease affects the different organs.

 Is scleroderma inherited?

It can be inherited but this is mostly in rarer instances, and often it happens because of sudden genetic changes in patients.

Will scleroderma affect my internal organs?

Yes, it can affect the internal organs, which can include the heart, lung, stomach, esophagus, the entire gut (intestine) and the kidneys.

Can a scleroderma patient still become pregnant?

Yes, but you will need to be managed by a high-risk obstetrician to ensure your wellbeing and the
baby.

Are there treatments for scleroderma?

There are treatments available for the different organs which are involved in Scleroderma. For Raynaud’s phenomenon, different drugs counteract the abnormal circulation and allow for less pain and discoloration. If there is lung involvement, there are certain immunosuppressants that can be used to try and halt more damage. For the skin tightening and fibrosis, there are similar immunosuppressant options which may work as well. There are currently many ongoing trials.

What is limited scleroderma?

This is a form of scleroderma where there is Raynaud’s phenomenon along with skin tightening of the hands, face, feet, and forearms. It is associated with acid reflux and other gastrointestinal complaints, a condition called pulmonary hypertension (where the pressure within the vessels of the lungs is higher than normal) and also interstitial lung disease (scarring and inflammation within the lung). Patients may also develop calcinosis, which is small calcium deposits are seen along with the digits, and due to this and Raynaud’s phenomenon, they may develop ulcers of the fingers. It is associated most with a specific antibody called anti-centromere.

What is diffused scleroderma?

This form of scleroderma is associated with Raynaud’s as well, but also more skin thickening and fibrotic involvement of the trunk of the body. There are more noticeable changes in the nailbeds as well. Patients develop internal organ involvement earlier and there may be more heart, lung, gastrointestinal and kidney disease. It is associated with antibodies called anti-Scl-70 and anti-RNA polymerase.