What Is Scleroderma—and How Can I Tell If I Have It?

Swollen fingers or toes, thickened skin, and swollen joints: These are among the signs that you might have scleroderma, a chronic disease of the skin and connective tissues affecting 300,000 Americans, commonly between the ages of 25 to 55 (although it can strike at any age). Women are diagnosed more frequently than men.

While the exact cause of the disease remains unknown, researchers do know that scleroderma comes about due to an overproduction of collagen (a fibrous protein). There are two main types of the disease: localized scleroderma, which affects the skin, and systemic scleroderma, which involves connective tissue in many parts of the body. Within those categories, there are a number of subtypes. As a result, each person experiences scleroderma differently, especially in terms of which organs are affected.

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“This is one of those systemic diseases that can affect multiple organs in our bodies,” says Safwan Saker, MD, a physician at Harper University Hospital in Detroit.

To understand scleroderma, it’s helpful to look at the origins of the word itself, which comes from the Greek sclero, or hard, and derma, or skin, since hardening of the skin is one of the most visible ways that this disease manifests, according to the Scleroderma Foundation.

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Keep an eye on scleroderma symptoms

Even though scleroderma is uncommon, scleroderma pictures show the way it presents, with such symptoms as hardened or thickened skin that looks shiny or smooth, small red spots on the face and chest, puffy or swollen fingers or toes, muscle weakness, swollen joints, and swelling.

It can also manifest in Raynaud’s disease, which causes fingers and toes to feel numb and cold.

“Raynaud’s is incredibly common in the general population, especially among young women,” says Laura Hummers, MD, co-director of the Johns Hopkins Scleroderma Center in Baltimore. “But not everyone with Raynaud’s will develop scleroderma.”

What you should know: If your Raynaud’s disease is severe or if it develops at an older age, you should speak to your physician about the possibility that you have scleroderma.

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“If you develop an ulcer or an open painful sore at the tip of your finger from Raynaud’s, that could be an indication that you have scleroderma,” Dr. Hummers adds.

Similarly, acid reflux may be a scleroderma symptom and, if it develops at an older age or worsens, this could be a sign of an underlying cause such as scleroderma, Dr. Hummers says.

“If you have severe reflux with trouble swallowing, that should be another signal,” she says.

Create a scleroderma game plan

When it comes to managing scleroderma, it’s imperative to make a game plan with your physician, and a diagnosis of the disease is usually made after a consult with a rheumatologist and dermatologist as well as blood tests and other specialized tests, depending on which organs are involved.

“For the most part, you should expect for a rheumatologist to be your primary caregiver since he or she has the most experience treating systemic autoimmune diseases,” Dr. Hummers says. “However, depending on the complications an individual might have, you might have one or more additional doctors to help care for you.”

The most severe complication of scleroderma is lung disease due to scars that can form on the lungs, Dr. Hummers adds.

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“If you have severe lung disease, you will be seeing a pulmonologist regularly,” she says. “Some scleroderma patients have kidney disease that can put them on dialysis or they might have bad GI issues, which means they will need to see a gastroenterologist but, in the end, care is usually quarterbacked by your rheumatologist.”

Given this, it’s imperative to make an early diagnosis and set up a treatment plan, Dr. Saker says.

“This should include follow-ups to prevent complications,” he says.

What your treatment plan will look like

While there is currently no cure for scleroderma, treatments exist to help control symptoms, which are extremely varied since the disease doesn’t affect every patient in the same way.

These include proton pump inhibitors to improve heartburn symptoms, steroids, NSAIDs, and blood pressure medications.

There are also many immune suppressive treatments that can help patients, Dr. Saker says.

“I’m excited about many of the drugs currently on the market to treat immune diseases as they are changing the response for scleroderma patients,” he says.

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And, since the pharma industry has taken an interest in scleroderma treatments, the future looks more promising.

“We’re seeing more activity in terms of clinical trials,” Dr. Hummers says. “And even though we haven’t found a drug yet to treat all aspects of the disease, we now have successes in some aspects, including a new study with a lung fibrosis drug, for example.”

All of this means there is room for hope for individuals coping with scleroderma.

“In the era of biologic agents, we will have more clinical trials,” she says. “And, as we understand immunology better, there will be better drugs for scleroderma patients.”

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