Autoimmune Skin Disorders

Autoimmune diseases—conditions where the body’s immune system attacks its own healthy tissues—commonly affect the skin and other areas of the body, such as joints, muscles, and organs.

There are many types of autoimmune skin conditions, and each has a unique set of symptoms, causes, and risk factors that determine how they are diagnosed and treated.

This article will discuss autoimmune skin disease types and symptoms. It will also address causes and treatment.

Types of Autoimmune Skin Conditions

There are many different types of autoimmune skin diseases and they are caused by the immune system attacking healthy skin cells.

Psoriasis 

Psoriasis is a chronic autoimmune disorder that causes the immune system to become overactive and speed up skin cell growth. Skin cells will build up in layers of red plaques covered in flaky, silver-white patches of dead skin, known as scales.

Plaques can build up anywhere on the body, but they most often occur on the elbows, knees, and middle of the body.

The condition tends to run in families, and it is not unusual for multiple family members to have it. In 2013, psoriasis affected 7.4 million American adults and that number continues to grow.

Anyone can develop psoriasis, but it most often begins between ages 10 and 35, or as people get older.

Skin plaques from psoriasis will heal and then come back at various times throughout your life. Triggers could be infections, skin injuries, sun exposure, medications, alcohol, and stress.

Scleroderma

Scleroderma is a connective tissue disease characterized by thickening and hardening of the skin. Connective tissue is the tissue that connects, supports, and separates all types of body tissues. Scleroderma is either localized or systemic (throughout the body).

With localized scleroderma, the disease affects mostly the skin, but it can also affect bones and muscles. Systemic scleroderma affects more than skin, bones, and muscles—it may involve the internal organs, including the heart, lungs, digestive tract, kidneys, and more. The severity and outcome of scleroderma differ from person to person. 

According to the Scleroderma Foundation, it is estimated up to 300,000 Americans live with scleroderma, and a third of them have systemic scleroderma.

Men and women are both at risk, but women account for 80% of the cases. Some of the risk factors for this autoimmune disorder are occupational exposure to silica dust and polyvinyl chloride.

While the disease can affect anyone regardless of age, systemic scleroderma is typically diagnosed between ages 30 and 50, and localized scleroderma appears before age 40.

Lupus of the Skin 

Cutaneous lupus—also called skin lupus—is an autoimmune skin condition where the immune system attacks healthy skin cells and damages the skin. Skin symptoms include redness, itching, pain, and scarring.

Approximately two-thirds of people with systemic lupus erythematosus (SLE lupus) will develop cutaneous lupus. Cutaneous lupus also occurs on its own. SLE Lupus is the most serious type of lupus affecting the joints, brain, kidneys, heart, blood vessels, and more.

While cutaneous lupus cannot be cured, it can be effectively treated. Treatment includes medications, skin protection, and lifestyle changes.

Dermatomyositis 

Dermatomyositis is an autoimmune disorder that primarily affects muscles, but it also affects the skin. It is related to polymyositis, another autoimmune disorder that causes muscle weakness, soreness, and stiffness. People with these types of muscle disorders may also have difficulty swallowing and shortness of breath.

Dermatomyositis and polymyositis share similar symptoms, but dermatomyositis is distinguishable by a skin rash that usually appears on the upper part of the body. Dermatomyositis also causes thickening and tightening of the skin and purplish-colored eyelids.

The childhood form of dermatomyositis is different than the adult form. Juvenile dermatomyositis (JDM) causes fever, fatigue, rash, and muscle weakness. Most causes of JDM start between ages 5 and 10, and JDM affects twice as many girls as it does boys.

Behcet's Disease

Behcet's disease is a rare disorder that causes blood vessel inflammation throughout the body. The condition causes mouth sores, eye inflammation, skin rashes, and genital lesions.

Behcet’s disease affects 0.33 to 5.2 people per 100,000 in the United States. Anyone can develop Behcet’s disease at any age, but symptoms often start between ages 20 and 30 and are more common in men and in the Middle East and certain Asian countries.

Behcet’s severity varies from person to person. Symptoms can come and go and people with the condition may experience periods of remission (where the disease stops or slows down) and periods of a flare-up (high disease activity). While the condition cannot be cured, various treatments can help to manage it. 

Ocular Cicatricial Pemphigoid 

Ocular cicatricial pemphigoid (OCP) is a rare autoimmune disease that affects both the skin and the mucous membrane of the eyes, especially the conjunctiva—the clear tissue that covers the white part of the eyes and the inside of the eyelids.

People with OCP will develop blistering of their skin and scarring of the conjunctiva. Blisters are painful and oozing and can develop on the skin, mouth, nose, intestinal tract, eyes, and genitals. Eye symptoms include redness, tearing, burning, light sensitivity, and foreign body sensation.

With OCP, the white blood cells attack the skin and mucous membranes. People with the condition may have more than one skin site and both eyes might be affected.

OCP is a systemic autoimmune disease that needs long-term treatment. It is treated with medications to calm the immune system and stop or slow down the autoimmune process. Treatment is important so the condition doesn’t cause conjunctiva scarring and vision loss.

Pemphigus

Pemphigus is an autoimmune skin disease that causes blistering of the skin and the inside of the mouth, nose, throat, eyes, and genitals. Pemphigus blisters are fragile and tend to burst, causing crusty sores. They can be painful, itchy, and ooze fluid. 

Pemphigus can affect anyone of any age, but it is mostly diagnosed in people ages 40–60.

Epidermolysis Bullosa 

There are many forms of epidermolysis bullosa, but only one is autoimmune: epidermolysis bullosa acquisita (EBA). All forms of the condition will cause fluid-filled blisters to develop in response to injuries that usually wouldn’t cause a reaction.

EBA causes blisters on the hands and feet as well as in the mucous membranes. Diagnosing this condition can be a challenge, but a distinguishing characteristic of EBA is that it affects adults in their 30s and 40s.

The underlying cause of EBA is unknown. However, researchers think a genetic component may be involved because the condition can affect several members of a family.

Bullous Pemphigoid

Bullous pemphigoid is a rare autoimmune skin condition that causes large, fluid blisters. These blisters often develop on the arms, legs, torso, and in the mouth.

Bullous pemphigoid mostly affects people over age 60, but it can also appear in younger people. It tends to be more common in the Western world and affects men and women equally. 

Bullous pemphigoid occurs when the immune system attacks the thin layer of skin tissue just below the outer layer. Sometimes, the condition goes away on its own, but it could also take many years to resolve. 

Treatment can help heal blisters, ease itching, reduce skin inflammation, and suppress the immune system. But bullous pemphigoid can lead to a serious infection or other life-threatening medical condition.

Autoimmune Skin Condition Symptoms

The skin is the largest organ of your body. It serves as a protective barrier to the body against trauma. It also helps with many body functions like regulating your internal body temperature. 

While the skin is made up of five distinct layers of skin, and the two top ones are most often affected by autoimmune skin diseases. The top layer is called the epidermis and it is the outermost layer. The underlying layer is the dermis and it contains vital cells, tissues, and structures.

These two layers are held together with proteins and other structures. When there is a separation of the two layers, blisters may form. These blisters can be small or large and contain fluid that contains dead or damaged skin.

Some blisters result from injury to the skin. With autoimmune skin diseases, blisters form because the body has created antibodies that attack proteins required for skin health and function. Sometimes, blisters can break open and become open sores.

In other autoimmune skin diseases, lesions can also form on mucous membranes—the esophagus, throat, inside of the mouth and nasal pathways, the genitals, and anus. Blisters can also cause gastrointestinal bleeding and problems with swallowing and breathing.

Conditions like psoriasis cause an overgrowth of skin cells that pile up on the surface of the skin. These plaques can burn, sting, and itch.

Other symptoms of autoimmune skin diseases include:

• Chronic fatigue
• Skin inflammation (swelling)
• Small patches of red, scaly skin
• Skin scarring
• Dry, cracked skin that may bleed or itch
• Thickened, pitted, and ridged nails
• Stiff and swollen joints

What Causes Autoimmune Skin Disorders?

Autoimmune skin diseases occur because the body’s immune system attacks its own healthy tissues. The immune system would normally produce antibodies—proteins that react against bacteria, viruses, and toxins.

When these antibodies attack healthy tissues, they are called autoantibodies. With autoimmune skin conditions, autoantibodies attack skin cells or collagen tissues. The exact reasons for why the immune system malfunctions in autoimmune skin diseases are unknown.

Researchers link a variety of triggers for the development of these conditions, including ultraviolet radiation (from the sun), hormones, infections, and certain foods. Some prescription drugs may play a part in the development of these disorders. Stress can also trigger autoimmune skin conditions. 

Researchers think that some people have a genetic predisposition for certain autoimmune skin diseases. People with specific genes have an increased risk of developing a particular skin condition, but only if other trigger factors exist.

How Are Autoimmune Skin Disorders Diagnosed?

If your healthcare provider thinks you might have an autoimmune skin condition, they will ask you for a detailed medical and symptom history, and perform a physical examination of your skin. A diagnosis can be confirmed with bloodwork and/or a skin biopsy.

Blood tests can reveal autoantibodies associated with a specific autoimmune skin disease. By revealing which autoantibody protein has caused the skin symptoms, an exact diagnosis can be made.

A skin biopsy involves taking a small sample of affected tissue to be examined under a microscope to look for specific findings that indicate a particular condition. Many autoimmune skin conditions are diagnosed using direct immunofluorescence (DIF) for testing a skin biopsy sample.

DIF is considered a gold standard for diagnosing several types of autoimmune skin disorders, including cutaneous lupus, ocular cicatricial pemphigoid, pemphigus, epidermolysis bullosa, and bullous pemphigoid.

DIF uses a special dye to stain the sample so autoantibodies can be seen under a special type of microscope. By confirming the specific antibody present, the correct autoimmune skin disease can be diagnosed.

Treatment for Autoimmune Skin Disorders

Treatment for autoimmune skin diseases involves managing symptoms, slowing down the overactivity of the immune system, and preventing complications associated with these conditions. Generally, the less widespread skin symptoms are, the easier it will be to treat your autoimmune skin disease.

The most commonly prescribed treatments for autoimmune skin disorders are corticosteroids, such as prednisone. These drugs will mimic the effects of hormones your body naturally produces to suppress inflammation.

Additional therapies for autoimmune skin diseases include immunosuppressive drugs. These drugs are designed to suppress the immune system or reduce the effects of an overactive immune system. Immunosuppressant drugs can be given alone, or they can be combined.

Immunosuppressive drugs used to treat autoimmune skin conditions include:

• Calcineurin inhibitors like cyclosporine
• Cytotoxic drugs like Cytoxan (cyclophosphamide), Imuran (azathioprine), and methotrexate 
• Biologics like Orencia (abatacept) and Humira (adalimumab)
• Monoclonal antibody therapies like Simulect (basiliximab)

Certain Janus kinase (JAK) inhibitors, notably Xeljanz (tofacitinib), Olumiant (baricitinib), and Rinvoq (upadacitinib), may be used as well. These drugs are approved by the Food and Drug Administration (FDA) for use only in patients with autoimmune conditions who haven't responded to or cannot tolerate one or more tumor necrosis factor (TNF) inhibitors.

This is because research shows an increased risk of serious heart-related events such as heart attack or stroke, cancer, blood clots, and death using these JAK inhibitors.

Your healthcare provider may also recommend topical ointments to relieve skin symptoms and pain. UV light therapy can manage conditions like psoriasis to provide skin symptom relief. And because stress can make many of these conditions worse, stress management techniques will likely be part of your treatment plan. 

Summary

There are many types of autoimmune skin conditions, and each one has a unique set of symptoms, causes, and risk factors. They are usually diagnosed through detailed medical history, physical exam, bloodwork, and/or a skin biopsy. Treatment involves managing symptoms, slowing the overactive immune system, and preventing complications associated with these conditions.