Scleroderma – Types, Symptoms & causes

What is scleroderma?

Scleroderma is a rare autoimmune disease which replaces normal tissues with dense, thick fibrous tissues. In most cases, scleroderma affects only the skin. However, it can also affect other parts and organs of the body like the blood vessels, digestive tract, liver, kidneys, muscles and joints.

Scleroderma is categorised depending on the degree of skin involvement— limited or diffusive. Both categories can affect vascular organs. Severe forms of scleroderma can be life-threatening.

Types of scleroderma

The two major categories of scleroderma are

Localized scleroderma

Localised scleroderma only affects the skin. Localised scleroderma appears as waxy patches or streaks on the skin. Without proper treatment, localised scleroderma cannot be controlled or stop the progression of the disease.

Types of localised scleroderma include

• Circumscribed Morphea
• Generalised Morphea
• Linear Scleroderma

Circumscribed Morphea

Circumscribed morphea appears as single oval patches of morphea. The morphea usually occurs in patches that may vary in size and will have a red border, which will be thick and yellow in the centre.

If these lesions are not treated, they can enlarge and flatten. After treatment, these lesions become asymptomatic. If they are left untreated, they can extend into the deep subcutaneous tissues.

Generalised Morphea

Generalised morphea can appear as many patches of morphea in many anatomical areas like the trunk, head, arms and neck. They appear as thick, tight patches that can blend into each other. The severe form of generalised morphea is pan-sclerotic morphea.

Linear Scleroderma

Linear scleroderma is common in children below 10 years old. It can appear as tight, thick bands on the extremities, back and front of the trunk, buttocks and face. They can appear as a single band or as a mixed patch of morphea.

Linear scleroderma can affect the muscles and bones. When linear scleroderma affects the kids in their legs and arms, it can lead to the underdevelopment of the child’s limb, which can lead to disability.

Systemic scleroderma

Systemic scleroderma can affect the skin and blood vessels that are under the skin. It can also affect other parts like muscles, joints, heart, kidneys and gastrointestinal tract (GI).

The skin thickening causes tightening of the skin, which can lead to a loss of flexibility, especially in the fingers. Facial movements can also be affected or restricted, which includes a decrease in the opening of the mouth.

It can also cause inflammation, chronic joint pain and swelling in the muscles. Scleroderma patients also experience Raynaud’s phenomenon. Ulcers or skin sores can occur due to a lack of blood flow.

The types of systemic scleroderma

• Limited scleroderma
• Diffuse scleroderma
• Sine scleroderma

Limited scleroderma

Limited scleroderma is the most common type of scleroderma. The skin can get hardened and tightened in the fingers, forearms, hands and face. Limited scleroderma does not cause any internal organ damage and has a normal life expectancy.

Some people may have problems in their GI tract, like heartburn, severe Raynaud’s and musculoskeletal pain. A small set of people can develop pulmonary hypertension that can be life-threatening.

A subset of limited scleroderma, also known as CREST syndrome, is an acronym for the clinical feature

• Calcinosis (It causes calcium deposits under the skin, sometimes in tissues.)

• Raynaud’s phenomenon (It is an aggregated response to ambient temperatures, which makes the fingers or toes cold and numb.)

• Oesophageal dysmotility (This condition causes heartburn)
• Sclerodactyly (leads to the finger skin to thicken)
• Telangiectasias (causes enlarged blood vessels that appear as red spots on the face and fingers.)

Diffuse scleroderma

Diffuse scleroderma can lead to excessive production of collagen that can cause thickening of the areas of the body like hands, fingers, arms, legs and face. There can be significant damage to the organs, including the gastrointestinal tract, lungs, kidneys and heart.

Skin tightening is associated with itching and dryness. Musculoskeletal pain is common, and it can be life-threatening when scleroderma affects the lungs or heart. Acute severe systemic high blood pressure can lead to kidney damage.

Sine sclerosis

Sine sclerosis will have the same symptoms as systemic organ disease like Raynaud’s disease. However, symptoms related to skin thickening will not occur.

Causes of scleroderma

Scleroderma occurs due to overproduction and accumulation of collagen in the body. Collagen is a protein that makes up the body’s connective tissues, like the skin. The process of disease development is unknown. However, scientists predict that the body’s immune system may play a role in the occurrence of the disease.

Certain research evidence states that scleroderma can run in families. Other factors that contribute to the development of scleroderma include autoimmune diseases, mutation and environmental factors.

Symptoms of scleroderma

The symptoms of scleroderma can differ from one individual to another and the affected body part. Some of the common symptoms include

• Red spots on the skin
• Swelling of hands and feet
• Joint contractures
• Tight facial skin
• Ulcers on fingertips and toes
• Stiffness and pain in the joints
• Shortness of breath
• Persistent cough
• Difficulty swallowing
• Heartburns
• Weight loss
• Hair loss
• Constipation
• Digestive and gastrointestinal problems
• Fatigue

Apart from these symptoms, conditions like Raynaud’s disease and Sjögren’s syndrome can also affect people with scleroderma.

Diagnosis of scleroderma

The diagnosis of scleroderma depends on the symptoms. Initially, the doctor will do a physical examination, and then the patient’s medical history will be examined thoroughly.

Through physical examination, skin thickening or hardening and discolouration of fingers and toes can be found. If scleroderma is identified in the initial diagnosis, the doctor will recommend further tests.

Blood test

The blood test will help determine the elevated levels of immune factors. A person affected with scleroderma will have elevated levels of anti-nuclear antibodies. However, these antibodies can be found in people affected with lupus, and blood tests will also help in the diagnosis of scleroderma.  

Pulmonary function test

If scleroderma is confirmed through the blood test, a pulmonary function test will be required to determine whether it has spread to other organs like the lungs. If it has spread to the lungs, it can lead to scar tissue formation, further leading to complications.

Electrocardiogram

If the scleroderma has spread to heart tissue, it can lead to scarring of the heart tissues. This can lead to heart failure and defective electrical activity of the heart.

Other tests include imaging tests like X-rays and organ function tests to determine the other organs’ function.

Treatment of scleroderma

There is no cure for scleroderma. However, the symptoms of scleroderma can be managed with certain treatment methods.

Medications

The medication will depend on the person’s symptoms, and the part of the body scleroderma has affected. For example, if the scleroderma affects the digestive system, medication will be administered to reduce symptoms related to the digestive system.

Skin treatments

Skin treatments will be carried out for localised scleroderma. Topical applications are usually beneficial in such cases. Moisturisers can be used to prevent the skin from getting dry and to treat hardened skin.

To treat sores in the fingers and toes and to improve blood flow, nitroglycerin will be prescribed.

Therapies

Physical therapies can help improve strength and to carry out routine independently. Hand therapy can be administered to relieve hand contractures.

Surgical and other procedures

Surgery options like stem cell therapy can help treat scleroderma. If kidneys or lungs are damaged, organ transplantation can be considered.

Lifestyle and home remedies

Living with scleroderma can be difficult. However, certain lifestyles and home remedies can help with the disease.

Regular physical activity can help you to be flexible, relieves stiffness and improves blood circulation. Exercise can be crucial during the early stage of the disease.

If the skin is dry and hardened, apply moisturiser regularly. Avoid bathing in hot water, and harsh soaps can further damage the skin.

Protect from cold weather. Wear gloves and socks to protect yourself from sudden cold attacks.

When to consult a doctor?

Consult your doctor

• If you have hardened, dry and discoloured skin.
• Heartburns and swallowing problems.
• Sudden skin tightening and thickening.

Conclusion

Scleroderma cannot be treated. The disease is manageable and can slowly progress. Early diagnosis and treatment are crucial to treat the disease effectively.

Scleroderma can be managed with certain small changes like getting proper sleep, eating healthy, avoiding stress and regular physical activity. If the symptoms are severe, consult your doctor immediately.

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