Scleroderma
What is scleroderma?
Scleroderma is a rare autoimmune disease that triggers your immune system to make too much collagen. This results in hardened, tight skin and connective tissue that can lead to muscle and joint pain. Your symptoms could range from mild to more serious. Some types of scleroderma can damage your blood vessels and organs, including your heart, lungs, and digestive tract.
This is a complex, chronic condition, but it can be successfully treated. Penn Medicine’s autoimmune disease care experts work as a team to evaluate you using the latest diagnostic tests. Our specialists also provide you with treatment options that minimize the effects of the disease, prevent complications, and help you enjoy an active life.
Types of scleroderma
Scleroderma might only affect your skin, or it can spread to other parts of your body.
The localized form causes skin changes. Rarely, it might also affect your muscles. Symptoms are usually mild and fall under one of two categories:
- Morphea: This type of localized scleroderma causes thick, waxy, discolored patches on your chest, back, stomach, arms, or legs. The patches may grow bigger or get smaller over time, and your skin might get better on its own. Morphea usually develops between the ages of 20 and 50, but it can also occur in young children.
- Linear scleroderma: This form of the disease causes long streaks of hardened, waxy skin on your arm, leg, trunk, buttocks, or forehead. A deeper layer of tissue is affected, so it can impact the movement of your joints. This type usually affects children and can interfere with the growth of their limbs.
Also known as systemic sclerosis, this form of scleroderma affects your skin and other parts of your body. There are three kinds:
- Limited sclerosis: Also known as CREST syndrome, this type causes symptoms in a small area of your body, like your fingers, hands, or face. Internal organs may be affected, but symptoms are less severe and take several years to develop. Over time, limited sclerosis can lead to narrowing of the blood vessels in your lungs, known as pulmonary hypertension.
- Diffuse sclerosis: This type causes large areas of thickened skin, including on your chest, stomach, arms, legs, and face. The disease also affects multiple internal organs, which may include your gastrointestinal tract, kidneys, heart, or lungs. Symptoms appear quickly and can lead to complications, like lung disease.
- Sine sclerosis: A small number of people may have a form of systemic sclerosis that doesn’t fit the limited or diffuse types. If you have sine scleroderma, you don’t have hardened skin, but your internal organs can be damaged by the buildup of collagen.
Scleroderma symptoms and signs
The symptoms of scleroderma disease are different for every person and depend on whether you have a mild or severe form of the condition. Your symptoms might include:
- Thickened skin, including oval-shaped skin patches or long lines of hardened skin
- Tight skin on your fingers (sclerodactyly) or face, small bumps under your skin (calcinosis), or red spots on your skin (telangiectasias)
- Fingers and toes that become swollen, numb, and painful and may also turn white, blue, or red in the cold (Raynaud’s syndrome)
- Joint pain, swelling, and stiffness
- Shortness of breath, chest pain, dry cough, and dizziness
- Heartburn, trouble swallowing, or digestive issues like diarrhea or constipation
- Fatigue
Complications of scleroderma
Systemic scleroderma can make it hard to get nutrients from your food. Damage to internal organs can also lead to heart failure, lung scarring, pulmonary hypertension, kidney failure, and cancer. But treatments can help lower your risk of these health issues.
What causes scleroderma?
Scleroderma is caused by an overreaction of your immune system, which attacks healthy tissue and causes inflammation. Your body responds by making too much collagen. Doctors don’t know why this happens, but some people with scleroderma have been exposed to silica dust and polyvinyl chloride. Hormones might play a role, since people assigned female at birth have a higher chance of having scleroderma. You’re also more likely to get scleroderma if you’re African American, if you have a parent or sibling with the disease, or if you have another autoimmune disease like systemic lupus erythematosus or polymyositis.
Diagnosing scleroderma
Your doctor will do a thorough physical exam, looking for tight, thickened skin, including scleroderma face changes. They also look for abnormalities in your small blood vessels, heart, lungs, and digestive tract. You may need several tests that check your urine, blood, heart muscle, and skin.
Scleroderma treatment and management options
There’s no cure for scleroderma, but medications and therapies can help suppress your immune system, treat Raynaud’s phenomenon, and manage other symptoms. Physical and occupational therapy can help reduce joint stiffness and improve movement. In rare cases of severe damage, a transplant may be an option.
Precise diagnostics and therapies for rheumatological disorders
An accurate diagnosis means you can get treatments that will help you feel better and prevent complications. As part of a leading academic medical center, Penn Medicine’s doctors are recognized for their expertise and experience treating autoimmune diseases like scleroderma. Our rheumatologists work with dermatologists and other specialists to conduct a complete evaluation and create a treatment plan focused on your symptoms and health needs. Using the most advanced tools available, our scleroderma team provides you with the highest level of ongoing care.