Pemphigus
Pemphigus is a disease that causes blistering of the skin and the inside of the mouth, nose, throat, eyes, and genitals. The disease is rare in the United States.
Pemphigus is an autoimmune disease in which the immune system mistakenly attacks cells in the top layer of the skin (epidermis) and the mucous membranes. People with the disease produce antibodies against desmogleins, proteins that bind skin cells to one another, and less commonly other proteins in the skin. When these bonds are disrupted, skin becomes fragile, and fluid can collect between its layers, forming blisters.
There are several types of pemphigus, but the two main ones are:
- Pemphigus vulgaris, which normally affects the mucous membranes, such as the inside of the mouth, and can also affect the skin.
- Pemphigus foliaceus, which only affects the skin.
There is no cure for pemphigus, but in many cases, it is controllable with medications.
Who Gets Pemphigus?
You are more likely to get pemphigus if you have certain risk factors. These include:
- Ethnic background. While pemphigus occurs across ethnic and racial groups, some populations are at greater risk for certain types of the disease. People of Jewish (especially Ashkenazi), Indian, Southeast European, or Middle Eastern descent are more susceptible to pemphigus vulgaris. Certain populations in South America and Tunisia are more susceptible to pemphigus foliaceus.
- Geographic location. Pemphigus vulgaris is the most common type worldwide, but as noted above, pemphigus foliaceus is more common in some places, such as certain rural regions of Brazil and Tunisia.
- Sex and age. Women get pemphigus vulgaris slightly more frequently than men do, and the age of onset is usually between 50 and 60 years old. In some geographical areas, symptoms may begin in childhood.
- Genes. Scientists believe that the higher frequency of the disease in certain populations is partly due to genetics. For example, evidence shows that certain variants in a family of immune system genes called HLA are linked to a higher risk of pemphigus vulgaris and pemphigus foliaceus. Other genes have also been linked to a higher risk of pemphigus. However, even in these higher risk populations, the incidence of pemphigus is still quite rare, so pemphigus is not considered an inherited disease where a parent can directly pass the disease to a child.
- Medications. In rare cases, pemphigus has resulted from taking certain medicines, such as certain antibiotics and blood pressure medications. Medicines that contain a chemical group called a thiol have previously been linked to pemphigus.
- Cancer. Rarely, the development of a tumor—in particular a growth in a lymph node, tonsil, or thymus gland—can trigger the disease.
There are two major forms of pemphigus, and they are categorized based on the layer of skin where the blisters form and where the blisters are found on the body. The type of antibody that attacks the skin cells also helps define the type of pemphigus.
The two main forms of pemphigus are:
- Pemphigus vulgaris is the most common type in the United States. Blisters form in the mouth and other mucosal surfaces, and can also involve the skin. They develop within a deep layer of the epidermis and are often painful. There is a subtype of the disease called pemphigus vegetans in which blisters form mainly in the groin and under the arms or on the scalp, where they can leave persistent sores.
- Pemphigus foliaceus is less common and only affects the skin. The blisters form in upper layers of the epidermis and may be itchy or painful.
Other rare forms of pemphigus include:
- Paraneoplastic pemphigus. This type is characterized by sores in the mouth, particularly on the tongue and lips, but blisters or inflamed lesions usually also develop on the skin and other mucosal surfaces. Severe lung problems may occur with this type. People with this type of the disease usually have a tumor, and the disease may improve if the tumor is surgically removed.
- IgA pemphigus. A type of antibody called IgA causes this form. Blisters or pimple-like bumps often appear in groups or rings on the skin.
- Drug-induced pemphigus. Certain medicines, such as some antibiotics and blood pressure medications, as well as drugs that contain a chemical group called a thiol, may bring on pemphigus-like blisters or sores. The blisters and sores sometimes go away when you stop taking the medication.
The health care provider will use a stethoscope to listen to your lungs. Wheezing or other asthma-related sounds may be heard. The provider will take your medical history and ask about your symptoms.
Tests that may be ordered include:
- Allergy testing — a skin test or a blood test to see if a person with asthma is allergic to certain substances.
- Arterial blood gas — often done in people who are having a severe asthma attack.
- Chest x-ray or CT scan of the chest — to check for other conditions.
- Lung function tests, including peak flow measurements.
Pemphigus is an autoimmune disorder that happens when the immune system attacks healthy skin. Immune molecules called antibodies target proteins called desmogleins, which help link neighboring skin cells to one another. When these connections are broken, skin becomes fragile and fluid can collect between layers of cells, forming blisters.
Normally, the immune system protects the body from infection and disease. Research suggests that both genetic and environmental factors can contribute to disease onset. Something in the environment may trigger pemphigus in people who are at risk because of their genetic makeup. In rare cases, pemphigus may be caused by a tumor or by certain medications. Once the disease occurs, removing the potential triggers may or may not reverse the disease.
Early diagnosis is important, so if you have blisters on the skin or in the mouth that do not go away, it is important to see a doctor as soon as you can. Your doctor may try to rule out other conditions first, since pemphigus is a rare disease. Your doctor may:
- Take your medical history, and give you a physical exam. A dermatologist (a doctor who specializes in conditions of the skin, hair, and nails) may ask you about your medical history and look at the appearance and location of blisters. He or she may run a finger or cotton swab over the surface of your skin to see if it shears off easily.
- Take a tissue sample. Your doctor may take a sample from one of your blisters to:
- Examine it under the microscope to look for cell separation and to determine the layer of skin in which the cells are separated.
- Determine which antibodies attacked the skin.
- Take a blood sample. Blood tests can help determine the types of antibodies that are in the blood and their levels, which can help predict the severity of the disease. This blood test may also be used later on to see if treatment is working.
There is no cure for pemphigus, but treatment can control the disease in most people. The initial goal of treatment is to clear existing blisters and help prevent relapses. Treatment typically depends on the severity and stage of the disease.
Symptoms of pemphigus may go away after many years of treatment, but most people need to continue taking medications to keep the disease under control. Treatment for pemphigus may involve the following medications:
- Corticosteroids. These anti-inflammatory medicines are a mainstay of treatment for pemphigus. They may be applied topically as a cream or ointment, or by mouth or injection (systemically). Most people will be prescribed systemic corticosteroids, at least initially, to bring the disease under control. Because they are potent drugs, your doctor will prescribe the lowest dose possible to achieve the desired benefit.
- Biologic response modifiers (or biologics). These target specific immune messages and interrupt the signal, helping to stop the immune system from attacking the skin. Rituximab is an approved biologic administered directly in the vein. It targets and depletes the immune cells that ultimately make the disease-causing antibodies.
- Antibiotics, antivirals, and antifungal medications to control or prevent infections.
If the above treatments do not work or are not tolerated, other treatments may be considered. These treatments include:
- Immunosuppressants. Although less effective than rituximab, these are oral medications that help suppress or curb the overactive immune system and may help to lower the dose of daily steroid.
- Plasmapheresis or immunoadsorption. These are procedures that remove or dilute out damaging antibodies from the blood.
- Intravenous immunoglobulin therapy. This is an intravenous infusion of pooled antibodies from 1,000 or more healthy blood donors, which dilute out the bad antibodies and calm inflammation.
Be sure to report any problems or side effects from medications to your doctor.
In some cases, a person with pemphigus may need to be hospitalized to treat health problems that the disease or its treatment can cause. Widespread sores on the skin can result in dehydration or infection, and painful blisters in the mouth can make it difficult to eat. In the hospital, you may be given an IV to replace lost fluids, to get much-needed nutrition, and to treat infection.
Who Treats Pemphigus?
The following health care providers may diagnose and treat pemphigus:
- Dermatologists, who specialize in conditions of the skin, hair, and nails.
- Dentists, who can tell you how to take care of your gums and teeth if you have blisters in your mouth.
- Mental health professionals, who help people cope with difficulties in the home and workplace that may result from their medical conditions.
- Ophthalmologists, in cases where the eyes are affected. Ophthalmologists specialize in treating disorders and diseases of the eye.
- Otolaryngologists, if the larynx (voice box) or upper throat is affected and visualization is necessary to ensure symptoms are due to blisters or some other factor.
- Primary care doctors, such as a family physician or internal medicine specialist, who coordinate care between the different health care providers and treat other problems as they arise.
Blisters in the mouth may make brushing and flossing your teeth painful, so talk to your dentist about ways to keep your teeth and gums healthy. Generally, gentle cleanings every 3 months are recommended. Avoid foods that irritate your mouth blisters, and do not brush the gums when disease is active as this can slough off the mucosa. Your dermatologist may recommend baths and wound dressings to help heal the skin sores and blisters.
Pemphigus and its treatments can be debilitating and cause lost time at work, weight loss, sleep problems, and emotional distress. A mental health professional or a support group may help you cope with the disease.
Remember to follow the recommendations of your health care providers.
References
Centers for Disease Control and Prevention, National Center for Health Statistics
American Academy of Dermatology
International Pemphigus & Pemphigoid Foundation
Autoimmune Association
National Organization for Rare Disorders
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