Pemphigus vulgaris

Pemphigus vulgaris (PV) is a rare, chronic autoimmune blistering disease characterized by the production of autoantibodies (primarily IgG) directed against desmoglein 3 and, in many cases, desmoglein 1 — adhesion proteins (desmogleins) that hold skin cells (keratinocytes) together. The loss of cell-to-cell adhesion (acantholysis) leads to the formation of flaccid blisters and painful erosions on the mucous membranes and skin. The oral mucosa is typically the first site affected, with painful erosions that make eating and swallowing difficult. Skin lesions present as fragile blisters that rupture easily, leaving raw, painful erosions that heal slowly and are prone to secondary infection. The Nikolsky sign (extension of a blister with lateral pressure on apparently normal skin) is characteristically positive. Pemphigus vulgaris most commonly affects adults between the ages of 40 and 60, though it can occur at any age. It has a higher prevalence among individuals of Ashkenazi Jewish descent and those of Mediterranean, South Asian, and Middle Eastern origin. Certain HLA class II alleles, particularly HLA-DRB1*04:02 and HLA-DRB1*14:01, confer genetic susceptibility. Without treatment, PV can be life-threatening due to extensive skin loss, fluid and electrolyte imbalances, and secondary infections. The mainstay of treatment is systemic immunosuppression. Corticosteroids (primarily prednisone) remain the first-line therapy, often combined with steroid-sparing immunosuppressive agents such as azathioprine or mycophenolate mofetil. Rituximab, a monoclonal anti-CD20 antibody that depletes B lymphocytes, has emerged as a highly effective treatment and is now increasingly used as first-line or early therapy, significantly improving outcomes and reducing reliance on long-term corticosteroids. Intravenous immunoglobulin (IVIG) and plasmapheresis may be used in refractory cases. With modern treatment, the prognosis has improved substantially, though the disease often follows a relapsing-remitting course requiring long-term management.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Pemphigus vulgaris