Scleroderma

What is Scleroderma?

Scleroderma is a group of rare autoimmune diseases that cause hardening and tightening of the skin and connective tissues. The name comes from two Greek words meaning hard skin. In this condition, your immune system mistakenly attacks healthy tissue, causing excess collagen production.

There are two main types of scleroderma. Localized scleroderma mainly affects the skin in patches or lines. Systemic scleroderma, also called systemic sclerosis, can affect internal organs like the lungs, heart, kidneys, and digestive system. Systemic forms range from limited to diffuse, depending on how much skin and how many organs are involved.

Scleroderma is considered a chronic connective tissue disease and classified as an autoimmune rheumatic condition. It affects about 300,000 people in the United States. Women are diagnosed more often than men, typically between ages 30 and 50. Early detection through blood testing helps doctors monitor disease progression and begin treatment sooner.

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Symptoms

Tight, hardened, or thickened skin, especially on fingers and face
Raynaud's phenomenon, where fingers and toes turn white or blue in cold temperatures
Swelling or puffiness in the hands and fingers
Shiny, smooth skin that looks stretched
Small red spots on the skin from dilated blood vessels
Difficulty bending fingers or making a fist
Heartburn or difficulty swallowing
Shortness of breath or persistent dry cough
Joint pain or stiffness
Fatigue and weakness

Some people have only mild skin changes for years before other symptoms develop. Early symptoms often start with Raynaud's phenomenon before skin hardening becomes noticeable. The progression and severity vary widely from person to person.

Causes and risk factors

The exact cause of scleroderma remains unknown, but it involves an overactive immune system and excessive collagen production. Your immune system normally protects you from infection, but in scleroderma it attacks healthy connective tissue. This triggers inflammation and causes cells to make too much collagen, a protein that gives skin and organs their structure. The buildup of this excess collagen leads to hardening and thickening of affected tissues.

Risk factors include being female, age between 30 and 50, and having certain genetic markers. Environmental triggers like exposure to silica dust, certain solvents, or viral infections may play a role in some cases. Having a family member with scleroderma or another autoimmune disease slightly increases your risk. However, scleroderma is not contagious and cannot be passed directly from person to person.

How it's diagnosed

Doctors diagnose scleroderma through a combination of physical examination, medical history, and blood tests. Your doctor will examine your skin for hardening and thickening patterns. They will also ask about symptoms like Raynaud's phenomenon, swallowing difficulties, or breathing problems. Blood tests play a key role in identifying autoimmune markers that suggest scleroderma.

Rite Aid offers blood testing that screens for autoimmune markers associated with scleroderma. The ANA Screen and ANA Screen with IFA detect antinuclear antibodies, which are present in most people with systemic scleroderma. Rheumatoid Factor and Mitochondrial Antibody tests provide additional information about autoimmune activity. These tests help doctors confirm diagnosis, determine disease type, and monitor progression over time. Additional specialized tests like skin biopsy or imaging may be needed to assess organ involvement.

Treatment options

Medications to suppress the immune system and reduce inflammation
Blood pressure medications to protect kidneys and improve blood flow
Medications to reduce stomach acid and help with swallowing
Physical therapy to maintain joint flexibility and skin elasticity
Regular exercise to improve circulation and maintain range of motion
Skin moisturizers to prevent dryness and cracking
Protecting hands and feet from cold to prevent Raynaud's attacks
Eating smaller, more frequent meals to manage digestive symptoms
Avoiding smoking, which worsens blood vessel problems
Regular monitoring of lung, heart, and kidney function

Frequently asked questions

Localized scleroderma affects mainly the skin in specific areas like patches or lines. Systemic scleroderma involves internal organs in addition to skin changes and is also called systemic sclerosis. Systemic forms are more serious because they can affect the lungs, heart, kidneys, and digestive system. Localized forms rarely progress to systemic disease.

Yes, blood tests detect autoimmune markers that help diagnose scleroderma. The ANA Screen identifies antinuclear antibodies, which are found in about 95% of people with systemic scleroderma. Other tests like Rheumatoid Factor and Mitochondrial Antibody provide additional clues. No single blood test definitively confirms scleroderma, but they are essential diagnostic tools when combined with symptoms and physical findings.

Raynaud's phenomenon causes fingers and toes to turn white, blue, or red in response to cold or stress. This happens because blood vessels narrow too much, reducing blood flow. About 95% of people with systemic scleroderma experience Raynaud's, often years before other symptoms appear. Not everyone with Raynaud's has scleroderma, but it can be an early warning sign.

There is currently no cure for scleroderma, but treatments can manage symptoms and slow progression. Medications help control the immune system, protect organs, and improve quality of life. Many people with localized scleroderma see symptoms stabilize or improve over time. Early diagnosis and treatment make a significant difference in outcomes, especially for systemic forms.

Systemic scleroderma can cause scarring and dysfunction in multiple organs. The lungs may develop fibrosis, making breathing difficult. The digestive system can become sluggish, causing reflux and difficulty absorbing nutrients. The heart and kidneys may also be affected, sometimes leading to high blood pressure or kidney failure. Regular monitoring helps catch organ involvement early.

Women are about four times more likely than men to develop scleroderma. Most cases are diagnosed between ages 30 and 50, though it can occur at any age. People with family members who have scleroderma or other autoimmune diseases face slightly higher risk. Certain occupational exposures to silica dust or solvents may also increase risk.

Yes, lifestyle changes significantly improve symptom management and quality of life. Protecting your hands and feet from cold prevents Raynaud's attacks. Regular gentle exercise maintains joint flexibility and circulation. Eating smaller meals helps with digestive symptoms, and avoiding smoking is critical since it worsens blood vessel problems. Consistent skin care prevents dryness and cracking.

People with scleroderma need regular monitoring to track disease activity and organ function. Blood tests may be done every 3 to 6 months initially, then less frequently if the condition is stable. Your doctor will also monitor lung function, heart health, and kidney function at regular intervals. The exact testing schedule depends on your specific type and severity of disease.

Treatment depends on which organs are affected and symptom severity. Immunosuppressants like methotrexate or mycophenolate slow disease progression. Blood pressure medications protect kidneys and improve circulation. Proton pump inhibitors reduce stomach acid and heartburn. Some people benefit from medications that open blood vessels or reduce lung scarring.

Localized scleroderma sometimes goes into remission on its own or with treatment. Systemic scleroderma typically does not fully remit, but symptoms can stabilize with proper management. Some people experience periods where the disease is less active. Early treatment and careful monitoring improve the chances of keeping the condition under control and preventing serious organ damage.