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 ...