WHAT ARE PEMPHIGUS AND PEMPHIGOID?
Pemphigus is a group of rare autoimmune skin disorders characterized by the development of blisters in the outer layer of the skin (epidermis) and mucous membranes (thin moist layers that line the body's internal surfaces). The location and type of blisters vary according to the type of pemphigus. Pemphigoid is similar to pemphigus, but the blisters develop at the junction between the epidermis and the dermis. These diseases affect males and females in equal numbers and are most common in middle-aged and elderly people. However, cases of children with pemphigus or pemphigoid have been reported. These disorders have been found in all ethnic groups and races, but are more common in people of Jewish or Mediterranean ancestry. These are rare diseases, occurring once in 100,000 people in the United States.

WHAT ARE THE SYMPTOMS?
Blisters in the outer layer of the skin are common to all types of pemphigus. Blisters develop due to the destruction of the "cement" that holds cells together (epidermal acantholysis) resulting in the separation of cells from one another. Soft (flaccid) blisters generally occur on the neck, scalp, mucous membranes, and/or underarm (axillary) and groin areas (inguinal). Most patients with pemphigus have deposits of IgG (an immune system antibody that defends against foreign substances) around the blistered areas (in the epidermal cells called keratinocytes). Antiepidermal antibodies directed against skin cells are typically present in the fluid of the blisters. The diagnosis of pemphigus requires microscopic examination of cells in the blisters as well as detection of the IgG antibodies that characterize this disease.

Pemphigus vulgaris is the most common form and may begin with isolated blisters on the scalp, and then in the mouth. These may persist for several months and may be followed by blistering of the esophagus, nose, rectum, and/or the membranes that line the inner surfaces of the eyelids (conjunctiva). The blisters are soft; they break easily and heal poorly. Pressure on the borders of blisters causes them to spread. Pressure on normal-looking skin can cause it to blister (Nikolsky sign) in people with pemphigus vulgaris. If left untreated, pemphigus vulgaris may cause life-threatening complications.

Pemphigus vegetans is a variation of pemphigus vulgaris. The blisters are fast-growing and have large (hypertrophic) lesions that are usually located in the groin (inguinal) and armpit (axillary) areas.

Pemphigus foliaceus is less severe and a less common form of the disorder. Soft blisters typically occur close to the surface of the skin. When they break, they ooze and become crusty, scaly, and susceptible to infection. Blisters may occur on the scalp, face, upper chest, and back; the mucous membranes are usually not affected. Small, horny plugs attached to the undersurface of the affected skin also may be seen.

Bullous Pemphigoid is a chronic mild skin disorder that generally affects elderly people. It is characterized by large firm fluid-filled blisters (bullous pemphoid) that heal quickly and typically disappear in several months or years. However they may recur later. Early symptoms include redness on the skin followed within weeks by the appearance of blisters. The mucous membranes are rarely affected by bullous pemphigoid.

HOW IS IT DIAGNOSED?
It is important that pemphigus or pemphigoid be diagnosed early so that treatment can be successful with only low levels of medication. However, because pemphigus and pemphigoid are so rare, they are often the last diagnoses to be considered. If there are any persistent skin or mouth lesions, consult a dermatologist to be checked for pemphigus.

There are three criteria that must be met for a definite diagnosis:

Proper clinical presentation - visual examination of skin lesions.
Lesion biopsy - A sample of the blistered skin is removed and examined under the microscope to determine if the cells are separated in the manner characteristic of pemphigus. Additionally, the layer of skin in which cell-to-cell separation occurs can be determined.
Direct immunofluorescence - The biopsy skin sample is treated to detect desmoglein antibodies in the skin. The presence of these antibodies indicates pemphigus.

Another diagnostic test that may be used is called the indirect immunofluorescence or antibody titer test. This measures desmoglein autoantibodies in the blood serum. It may be used to obtain a more complete understanding of the course of the disease. Another test to measure desmoglein antibodies is called ELISA, or enzyme-linked immunosorbent assay. It is the most accurate test but is not available in all clinical labs.

HOW IS IT TREATED?
There are several different types of drugs that can be used alone or in combination to help treat pemphigus and pemphigoid.

Immunomodulating Drugs
Intravenous immune globulin (IVIG) is a biological therapy made from human plasma. It is given intravenously to help regulate the autoimmune response that causes pemphigus and pemphigoid. Current literature suggests that IVIG therapy given over a few years can provide lasting remission.

Steroids
Corticosteroids are widely used drugs for treating pemphigus and pemphigoid. Frequently, topical corticosteroid ointments can relieve inflammation and itching, and oral (systemic) corticosteroids such as prednisone relieve inflammation and suppress the immune system.

Immunosuppressive Drugs
Immunosuppressive drugs such as cyclosporine, cyclophosphamide, azathioprine, or methotrexate may be prescribed to treat severe cases of pemphigus and pemphigoid. Cytotoxic drugs may also be used to suppress the immune system. Gold compounds such as auranofin may be given to relieve inflammation and to attempt to suppress the immune system (chrysotherapy). The drug Dapsone may also be prescribed but should be used with extreme caution. To reduce immediate or long-term side effects, drug therapy may be stopped temporarily or changed.

Antibiotics
Antibiotic drugs or creams may be given to manage infection and relieve inflammation. Silver sulfadiazine cream also may be used. Dusting the patient and their bed sheets with talcum powder may relieve the discomfort of raw skin.

WHAT IS THE PROGNOSIS?
There are many therapies available today to help treat pemphigus and pemphigoid. If left untreated, these diseases can be fatal, usually due to generalized infection. However, especially if treatment is initiated early, many patients are able to control their disease.

SUPPORT GROUPS
The International Pemphigus Foundation provides support and information to patients with pemphigus and pemphigoid. The Pemphigus and Pemphigoid Society is another excellent resource.