Scleroderma

Overview

Scleroderma is a rare autoimmune rheumatic disease that causes hardening and tightening of the skin and, in some people, affects internal organs. The word “scleroderma” means “hard skin.” It happens when the immune system becomes overactive and leads to excess collagen, a protein that normally supports the skin and connective tissues.

Scleroderma can vary widely from person to person. Some people have changes limited mainly to the skin, while others may have involvement of the blood vessels, joints, digestive system, lungs, heart or kidneys. The condition is long-term, but its course is different for each individual. Early medical evaluation and regular follow-up are important to monitor symptoms, support daily function and reduce the risk of complications.

Symptoms

Symptoms depend on the type of scleroderma and which parts of the body are affected. They may develop gradually and can be mild or more noticeable over time.

• Thickened, tight or shiny skin, often on the fingers, hands, face or forearms
• Swelling or puffiness of the fingers or hands, especially in early stages
• Fingers or toes that change color in response to cold or stress, sometimes turning white, blue or red
• Stiffness, discomfort or reduced movement in the joints
• Small visible blood vessels on the skin, particularly on the face or hands
• Calcium deposits under the skin, which may feel like small lumps
• Heartburn, swallowing difficulty, bloating, constipation or diarrhea
• Shortness of breath, dry cough or reduced exercise tolerance if the lungs are involved
• Fatigue and reduced energy

Some people have a localized form that mainly affects patches or lines of skin. Others have systemic sclerosis, which can affect both the skin and internal organs. Not everyone experiences all symptoms.

Causes and Risk Factors

The exact cause of scleroderma is not fully understood. It is considered an autoimmune condition, meaning the immune system mistakenly targets the body’s own tissues. This process can affect small blood vessels and stimulate the body to produce too much collagen, leading to thickening and scarring of tissues.

Scleroderma is not contagious. It cannot be spread from one person to another. Several factors may contribute to its development, including genetic susceptibility, immune system changes and environmental triggers. In most cases, there is no single clear cause.

Risk factors may include:

• Being female
• Having a personal or family history of autoimmune disease
• Certain environmental or occupational exposures, although these are not present in many cases
• Age, as symptoms often begin in adulthood, though scleroderma can occur at different ages

Having a risk factor does not mean a person will develop scleroderma, and many people with the condition have no obvious risk factors.

Diagnosis

Diagnosing scleroderma usually involves a careful review of symptoms, a physical examination and specific tests. Because symptoms can overlap with other rheumatic or autoimmune diseases, evaluation by a rheumatologist is often important.

The doctor may examine the skin, joints, blood circulation in the fingers and toes, and signs of organ involvement. Blood tests may be used to look for autoimmune markers and to assess general health. Imaging or functional tests may be recommended if there are symptoms involving the lungs, heart, digestive system or kidneys.

Depending on the findings, tests may include assessment of lung function, heart evaluation, imaging studies or examination of the small blood vessels near the fingernails. The goal is to confirm the type of scleroderma, understand which organs may be affected and create an appropriate monitoring and care plan.

Treatment Options

There is no single treatment that is suitable for every person with scleroderma. Treatment is individualized according to the type of disease, symptoms, organs involved and overall health. The aim is to manage symptoms, protect organ function, maintain mobility and improve quality of life.

Care may involve a team that includes rheumatologists and, when needed, specialists in dermatology, pulmonology, cardiology, gastroenterology, nephrology, rehabilitation and nutrition.

Treatment approaches may include:

• Medicines to help control immune system activity or inflammation, when appropriate
• Management of circulation problems in the fingers and toes
• Treatment for digestive symptoms such as reflux or swallowing difficulty
• Monitoring and care for lung, heart or kidney involvement
• Physical or occupational therapy to support joint movement, hand function and daily activities
• Skin care measures to reduce dryness, cracking and discomfort
• Lifestyle guidance, such as avoiding cold exposure, not smoking and maintaining regular activity within personal limits

Regular follow-up is important because symptoms and organ involvement can change over time. Patients should discuss any new or worsening symptoms with their healthcare team.

When to See a Doctor

Medical evaluation is recommended if a person notices persistent skin thickening, unexplained swelling of the fingers, repeated color changes in the fingers or toes with cold exposure, or symptoms such as joint stiffness, heartburn, swallowing difficulty or unusual fatigue.

Prompt medical attention is especially important if there is shortness of breath, chest discomfort, a new persistent cough, sudden worsening of blood pressure-related symptoms, reduced urination, severe weakness or painful sores on the fingertips. These symptoms may need urgent assessment.

People already diagnosed with scleroderma should attend scheduled follow-up visits and report changes early. With appropriate specialist care and monitoring, many symptoms can be addressed and complications can be detected as early as possible.