Pemphigus

A rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibodies to an intercellular cement substance of the basal membrane.

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It affects males and females in equal numbers and is most common in middle-aged and elderly people. Few cases have been reported in children. All ethnic groups and races can be affected; however it is believed to be more common in Jewish or Mediterranean descent. It occurs once in 100,000 people in the United States.

Large family of rare blistering disease.

Pemphigus Vulgaris: The most common familial pemphigus vulgaris. Occurs predominantly in Jewish or Mediterranean peoples. It usually appears as painful nonhealing oral ulcers, which may be the only evidence of the disease for weeks or months. The typical lesions are small, flaccid bullae arising from normal skin; they rupture rapidly, leaving nonhealing painful erosions. Patients often complain of burning and pain. Lesions may be present in the esophagus and nasal cavity. The blister is intraepidermal; autoantibodies directed to desmoglein 3 (a keratinocyte surface antigen) are present. Untreated, the disease normally progresses to loss of most of the epidermis and death. It can appear antenatally from women who have an active pemphigus or who are in remission. The outcome of the fetus is very poor, including demise.

Pemphigus Foliaceus: This is extremely rare, and presents as small crusted lesions on the scalp, face, chest, and back. The site of cleavage is high in the epidermis. Autoantibodies directed to desmoglein 1 are present. It often resembles seborrheic dermatitis.

Hailey-Hailey Disease (Benign Familial Pemphigus; Benign Chronic Pemphigus): This is an autosomal dominant disease. The recurrent eruption of bullae and vesicles involves predominantly the neck, groin, and axillary areas. The acantholysis is suprabasal. There could be some overlap between Darier and Hailey-Hailey disease.

Pemphigus Erythematosus (Senear-Usher Syndrome): Pemphigus is an autoimmune bullous skin disease with acantholysis in the epidermis. The cutaneous lesions often consist of well-marginated plaques that are erythematous, scaly, hyperkeratotic, and crusted. The lesions have a seborrheic distribution and are often present in a butterfly pattern over the malar area.

Most forms of pemphigus are generally considered to be autoimmune-related. However, Benign Familial Pemphigus (Hailey-Hailey Disease) is inherited as an autosomal dominant transmission. The gene responsible is chromosome 3 (3q21-q24). Fogo Selvagem (Brazilian Pemphigus Foliaceus) is an autoimmune blistering disorder transmitted through the bite of blackflies. Pemphigus may also occur following x-ray exposure or adverse reaction to drugs such as d-penicillamine or rifampin.

Blisters in the outer layer of the skin are common to all types of pemphigus (epidermal acantholysis). Deposits of IgG in the epidermal cells are called keratinocytes. Antiepidermal antibodies directed against skin cells are typically present in the fluid of the blisters (biopsy).

Based on the appearance of the lesions and confirmed by skin biopsy. The diagnosis of pemphigus requires microscopic examination of cells in the blisters as well as detection of the IgG antibodies that characterize this disease.

Flaccid blisters occur on the neck, scalp, mucous membranes, axillary areas, and the inguinal areas.

Pemphigus Vulgaris is the most common form and begins with isolated blisters on the scalp and the mouth. They may persist for several months. Blistering of the esophagus, nose, rectum, and conjunctivae are reported. The blisters are soft. They rupture easily and heal poorly. Pressure on the borders of blisters causes them to spread. The Nikolsky sign, pressure applied on normal skin, may make it blister. Untreated, it may cause life-threatening complications.

Pemphigus Vegetans is a variation of Pemphigus Vulgaris. The blisters are fast-growing and hypertrophic lesions in the inguinal and axillary areas.

Pemphigus Foliaceus is less severe and less common. Soft blisters typically occur close to the surface of the skin and when they rupture, 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.

Pemphigus Foliaceus occurs in South America, particularly Brazil and Colombia, and is called Fogo Selvagem. Individuals affected present with symptoms of both Pemphigus Foliaceus and systemic lupus erythematosus; they are said to have Pemphigus Erythematosus.

Pemphigus may also occur as a result of an adverse reaction to certain drugs such as d-penicillamine and rifampin; symptoms usually resemble those of Pemphigus Foliaceus rather than Pemphigus Vulgaris. Pemphigus Herpetiformis is a subtle form of pemphigus with its own characteristic blisters. However, blisters that form during a relapse may resemble those of Pemphigus Foliaceus.

Benign Familial Pemphigus (Hailey-Hailey Disease) is characterized clinically with recurrent blisters on the neck, groin, and axillae. Blisters may recur because of sweating, skin infections, and exposure to extreme heat and/or ultraviolet light.

Careful history of the medication, because most patients are under corticosteroid, methotrexate, cyclosporine, or dapsone therapy. Tetracycline and niacinamide seem to be the more appropriate drugs for treatment.

Very careful positioning and padding. Avoid the sticky tape, use petroleum jelly gauze, and lubricate the blade and the tube well. If the back is not involved, use of neuraxial regional anesthesia is possible.

A rare complication of dapsone is methemoglobinemia.

Bullous Pemphigoid: Chronic nonhereditary blistering disease of the skin or mucosae. Usually considered an autoimmune disease. The mucous membranes are rarely affected by bullous pemphigoid.

Darier-White Disease: A progressive inherited skin disorder characterized by elevated lesions (papules) on the skin and mucous membranes, finger, and toe nail changes in appearance. A sensation of itching or burning on the skin, especially the scalp, forehead, face, neck, and back, is the first manifestation. The symptoms tend to become more severe during periods of emotional stress or with exposure to sunlight.

Epidermolytic Hyperkeratosis (Bullous Type): Characterized by hyperkeratosis and erythroderma. The symptoms are present at birth and may range from mild to severe. The skin may appear “warty," blistered, and thick over most of the body, particularly in the skin creases over joints.

Erythema Multiforme (EM): An allergic inflammatory skin disorder characterized by erythematous macules or papules that may grow into larger blisters. Affected areas generally include the hands, forearms, feet, and/or mucous membranes of the mouth, nose, and/or genitals. The skin lesions and blisters tend to heal in approximately 2 to 6 weeks. Other clinical features may also cause fever, joint pain, cough, and a sore throat.

Epidermolysis Bullosa: Represents a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma.

Epidermolysis Bullosa Acquista: A rare autoimmune disorder of the skin that typically affects middle-aged and elderly people. Trauma may cause blisters on the skin of the elbows, knees, pelvis, buttocks, and scalp. Increased levels of IgG are usually found around the blisters; scars usually remain after healing.