Pemphigus vulgaris

An autoimmune blistering disorder

Pemphigus vulgaris
pemphigus vulgaris - intermed mag.jpg
Micrograph of pemphigus vulgaris with the characteristic "tombstoning". H&E stain.
Synonyms	PV
Pronunciation	/ˈpɛmfɪɡəs vʌlˈɡɛərɪs/
Specialty	Dermatology, Immunology
Symptoms	Painful blisters on the skin and mucous membranes, especially in the mouth
Complications	Secondary infections, dehydration, sepsis
Usual onset	Typically middle-aged or older adults
Duration	Chronic, potentially life-threatening if untreated
Types	Mucosal-dominant, mucocutaneous
Causes	Autoimmune response against desmoglein proteins (DSG1 and DSG3)
Risk factors	Genetic predisposition, certain medications, other autoimmune disorders
Diagnosis	Skin biopsy, direct immunofluorescence, ELISA for desmoglein antibodies
Differential diagnosis	Bullous pemphigoid, mucous membrane pemphigoid, lichen planus, Stevens–Johnson syndrome
Prevention	No known prevention; avoid triggering medications
Treatment	Immunosuppressive therapy, corticosteroids, biologic therapy (e.g., rituximab)
Medication	Prednisone, azathioprine, mycophenolate mofetil, rituximab
Prognosis	Improved with treatment; risk of relapse or complications persists
Frequency	Rare (1–5 cases per million per year)
Deaths	Reduced with modern therapies; previously high mortality without treatment

Pemphigus vulgaris is a rare, chronic autoimmune disease characterized by the formation of blisters and erosions on the skin and mucous membranes. It is the most common form of pemphigus, a group of autoimmune blistering disorders.

Pathophysiology

Pemphigus vulgaris is caused by the production of autoantibodies against desmoglein, a protein that is critical for the adhesion of keratinocytes in the epidermis. Desmoglein is a component of desmosomes, which are structures that hold cells together. The autoantibodies disrupt the function of desmoglein, leading to the loss of cell adhesion, a process known as acantholysis. This results in the formation of intraepidermal blisters.

Pemphigus vulgaris on face

Pemphigus vulgaris

Clinical Presentation

Patients with pemphigus vulgaris typically present with painful blisters and erosions on the skin and mucous membranes. The oral cavity is often the first site of involvement, with painful erosions that can make eating and drinking difficult. Skin lesions may appear as flaccid blisters that easily rupture, leaving raw, painful areas.

Diagnosis

The diagnosis of pemphigus vulgaris is based on clinical examination, histopathological findings, and immunofluorescence studies. A skin biopsy from the edge of a blister can show acantholysis and intraepidermal blister formation. Direct immunofluorescence of perilesional skin typically reveals IgG and C3 deposits in the intercellular spaces of the epidermis. Indirect immunofluorescence can detect circulating autoantibodies in the patient's serum.

Treatment

The mainstay of treatment for pemphigus vulgaris is systemic corticosteroids, which help to reduce inflammation and autoantibody production. Immunosuppressive agents such as azathioprine, mycophenolate mofetil, and rituximab are often used as steroid-sparing agents. Plasmapheresis and intravenous immunoglobulin (IVIG) may be considered in severe cases.

Prognosis

With appropriate treatment, the prognosis of pemphigus vulgaris has improved significantly. However, it remains a potentially life-threatening condition due to the risk of infection and complications from long-term immunosuppressive therapy. Early diagnosis and aggressive treatment are crucial to improving outcomes.

Related pages

• Autoimmune disease
• Blister
• Desmosome
• Immunofluorescence
• Rituximab

External links

• Pemphigus vulgaris - DermNet New Zealand