Pemphigus vulgaris, familial

Familial Pemphigus Vulgaris
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Blisters, erosions on skin and mucous membranes
Complications	Infection, dehydration
Onset	Middle age
Duration	Chronic
Types	N/A
Causes	Genetic predisposition, autoimmune response
Risks	Family history
Diagnosis	Clinical evaluation, biopsy, immunofluorescence
Differential diagnosis	N/A
Prevention	N/A
Treatment	Corticosteroids, immunosuppressants
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Familial Pemphigus Vulgaris is a rare autoimmune disease characterized by the formation of blisters and erosions on the skin and mucous membranes. It is a subtype of Pemphigus vulgaris, distinguished by its occurrence within families, suggesting a genetic predisposition.

Pathophysiology

Pemphigus vulgaris is caused by the production of autoantibodies against desmogleins, which are proteins critical for cell adhesion in the epidermis. In familial cases, genetic factors may contribute to the susceptibility to developing these autoantibodies. The breakdown of cell adhesion leads to the formation of intraepidermal blisters.

Clinical Presentation

Patients with familial pemphigus vulgaris typically present with painful blisters and erosions on the skin and mucous membranes, particularly in the mouth. The condition can lead to significant discomfort and complications such as secondary infections and dehydration.

Diagnosis

Diagnosis is based on clinical evaluation, histopathological examination of a skin biopsy, and direct immunofluorescence testing. The presence of IgG autoantibodies against desmoglein 3 is a hallmark of the disease.

Treatment

The mainstay of treatment for familial pemphigus vulgaris involves the use of systemic corticosteroids to reduce inflammation and autoantibody production. Immunosuppressive agents such as azathioprine or mycophenolate mofetil may be used as steroid-sparing agents. In severe cases, biologic therapies like rituximab have shown efficacy.

Prognosis

The prognosis of familial pemphigus vulgaris varies. With appropriate treatment, many patients achieve remission, although relapses are common. Long-term management is often necessary to control the disease and prevent complications.

Genetic Considerations

Familial cases of pemphigus vulgaris suggest a hereditary component, although the exact genetic factors are not fully understood. Studies have indicated associations with certain HLA alleles, which may influence susceptibility to the disease.

Also see

• Pemphigus vulgaris
• Autoimmune diseases
• Blistering skin conditions
• Desmoglein

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