People with autoimmune diseases often face a complicated journey to diagnosis and treatment. Those whose skin is affected face the additional stigma of having symptoms that are visible to everyone they meet. 

Doctors in Yale Medicine's dermatology and rheumatology departments work closely together to help people with autoimmune diseases such as lupus and scleroderma look and feel as good as possible. They not only provide warm, personal patient care, but also participate in research to advance treatment of skin conditions associated with autoimmune diseases for people all around the world.

Autoimmune diseases tend to bring complicated symptoms. Many people with these conditions see doctors in several medical specialties. Lupus and scleroderma are two that primarily affect the skin, requiring dermatology care. But these diseases may also affect connective tissues, which are treated by a rheumatologist. “We aim for an interdisciplinary approach for patients who may require the expertise of multiple specialists,” says Yale Medicine dermatologist Sarika Manoj Ramachandran, MD.

When a person’s immune system starts fighting against the cells it’s supposed to protect, it can lead to autoimmune diseases, several of which affect the skin and internal organs. In most of these skin-involved diseases, symptoms can vary greatly from person to person. (For example, not all patients with one of these autoimmune diseases will eventually have symptoms that affect internal organs.) Two of the most common such conditions are lupus and scleroderma. 

• Lupus: A disease called lupus leads to a wide variety of symptoms, many of which can resemble other skin diseases. When it affects the skin, the condition is known as cutaneous lupus (or skin lupus). It can come in many form —most commonly, patients will see a butterfly-shaped rash, often on the face. When it spreads beyond the skin, it’s known as systemic lupus erythematosus (SLE), and the inflammation can affect the joints, the kidneys and other organs.
• Scleroderma: Like lupus, scleroderma can affect the skin, or it can become systemic. In this case, the immune system produces too much collagen, causing the skin to tighten and become tough and hard. When scleroderma is localized, or mainly affecting the skin, it can either be morphea, which manifests as oval patches, or linear, which shows up as streaks of hard patches. When scleroderma is systemic, it can develop slowly or quickly, affecting internal organs such as the lungs, heart and kidneys.

The causes for autoimmune diseases that affect the skin are still largely unknown, though doctors continue to research in order to help better understand—and treat—them.

While lupus, for example, is known to be set off by sun exposure and specific stressors in some people, the underlying causes of the disease are still under investigation. Dr. Ramachandran says that some medications, including some anti-hypertensives and anti-fungals, have been implicated in the onset of lupus. In those cases, symptoms generally go away after the drug is no longer used.

“Although we don’t know exactly why certain people get lupus,” Dr. Ramachandran says, “we do think there can be both an environmental trigger and then underlying tendencies toward developing it, and those, in conjunction, may bring it out in people.”

The underlying causes of scleroderma are also unknown. Like lupus, some environmental factors may play a role, including some industrial chemical toxins such as epoxy resins and silica. Also like lupus, genetics may play a role in causing the disease. 

Lupus is more likely to develop in women in their 20s and 30s, though it can develop in patients of any sex, age, race or ethnicity. Similarly, scleroderma, which is somewhat rare, commonly affects women, and generally affects adults in their mid-30s to 50s. Still, like lupus, it can appear in every age group and across every sex, race and ethnicity.

Because conditions such as lupus and scleroderma have symptoms that can resemble many other diseases, they can be difficult to diagnose initially. Lupus, for instance, can have symptoms that include fatigue and fever. Symptoms of scleroderma can include heartburn. 

When you notice the first symptoms—generally some form of skin rash that doesn’t go away or that worsens over time—you may seek treatment from a primary care doctor or dermatologist. An examination with a doctor can include discussion of symptoms, personal medical history and family history, as well as blood and other laboratory tests (including possibly a skin biopsy, in certain cases of potential scleroderma). The patient may then consult with a rheumatologist, who will have more experience working with the internal symptoms of the disease. Over time and depending on his or her symptoms, a patient may work with either a dermatologist or a rheumatologist, or both.

While there are currently no curative treatments for these autoimmune diseases, there are courses of action that can lead to periods of remission or a reduction in flare-ups. Depending on the symptoms, there is a range of options that may be used singularly or in conjunction with each other. The symptoms that affect the skin are often the first and sometimes the only ones that appear and are often comparatively easier to treat than those that affect internal organs.

• Lupus: Over-the-counter anti-inflammatory drugs such as Motrin (ibuprofen) may be used in some patients to treat swelling and pain. Another option to treat inflammation is corticosteroids, though side effects can include a higher risk of contracting infections. Anti-malarial drugs including Plaquenil (hydroxychloroquine) are often used to treat the symptoms of lupus because they’ve been shown to alleviate joint pain, improve skin rashes and help reduce flare-ups significantly. Doctors may also prescribe immunosuppressants such as Azasan (azathioprine), which suppress the immune system to prevent it from attacking the cells it shouldn’t be attacking. 

Additionally, because ultraviolet light can cause flare-ups, patients are advised to be very careful with sun exposure, wearing sun-protective clothing, hats and sunscreen with a high SPF. “There are certain local treatments that can be helpful but number one is sun protection,” says Dr. Ramachandran.

• Scleroderma. Because vascular disease can commonly occur in patients with scleroderma, drugs such as some blood pressure medications may be used to open up the blood vessels. As with lupus, over-the-counter anti-inflammatory drugs, corticosteroids and immunosuppressants can also help to reduce symptoms of scleroderma. “A lot of these autoimmune conditions can be treated with immunosuppressant medications,” Dr. Ramachandran says. “But while you’re on them, you need to be closely monitored by your physician to make sure you’re not getting infections.”

“At Yale Medicine, we get together to discuss complicated cases to try to give the patients an interdisciplinary approach to their care,” says Dr. Ramachandran. “There’s definitely an advantage to have everyone on the same page," she says.

Yale Medicine dermatologists also receive many referrals from doctors throughout the region. 

"Through referrals, we see some of the more complicated cases,” Dr. Ramachandran says. “The doctors here truly care about their patients and try to come up with the best possible treatment regimens, working together to help patients with more challenging conditions.”