Blistering Disease, Pemphigus, Pemphigoid

Penn Dermatology in Philadelphia provides comprehensive care for blistering diseases affecting the skin including autoimmune blistering diseases and hereditary blistering diseases.

Autoimmune Blistering Diseases and Hereditary Blistering Diseases

The Blistering Disease Clinic at Penn Dermatology specializes in diagnosing and treating patients with these rare but potentially life-threatening skin blistering diseases. The clinic manages and cares for patients from across the Philadelphia region and beyond. Other physicians routinely refer patients that are difficult to diagnose or treat to Penn Dermatology’s Blistering Disease Clinic. Penn dermatologists and specialists use state-of-the-art diagnostic techniques, including electron microscopy, immunofluorescence and ELISA assays that may not be available elsewhere.

There are two major categories of blistering diseases.

Autoimmune Blistering Disease

Autoimmune blistering diseases occur when the body’s immune system mistakenly attacks healthy body tissue causing blistering and sores, mainly of the skin and mucous membranes. These diseases appear when the body makes antibodies against skin proteins that are responsible for holding skin cells together, causing skin blistering and inflammation. The two most common forms are:

• Pemphigus: A rare and potentially fatal condition if left untreated, pemphigus causes easily ruptured blisters of the skin and mucous membranes in the mouth, nose, throat and genitals.
• Pemphigoid: Another rare and potentially fatal condition that causes hive-like lesions and/or large, fluid-filled and very itchy blisters surrounded by areas of red inflamed skin.

Although these are the most common autoimmune blistering diseases, physicians at Penn treat all autoimmune blistering diseases including epidermolysis bullosa acquisita, linear lgA bullous dermatosis, p200 pemphigoid, mucous membrane pemphigoid, dermatitis herpetiformis, bullous lupus and others.

Hereditary Blistering Disease

Hereditary blistering diseases are skin blistering conditions that appear at birth. Several forms of the disease include:

• Epidermolysis Bullosa Simplex: An inherited connective tissue disease causing blistering of the skin and mucous membranes.
• Junctional Epidermolysis Bullosa: A hereditary condition that causes the skin and mucous membranes to be fragile and blister easily from rubbing, scratching or minor injuries.
• Dystrophic Epidermolysis Bullosa: A hereditary disease that causes blistering of the hands, feet, knees and elbows and, in more severe cases other areas of the body.

At Penn Dermatology, specialists caring for patients with hereditary blistering diseases are followed from infancy to adulthood through the pediatric and adult dermatology departments. Some forms of the disease can involve internal organs. Penn’s dermatologists work with an interdisciplinary team of physicians and specialists to ensure that all aspects of the disease are properly diagnosed and managed.

Clinical Trials for Blistering Disease at Penn

Clinical trials and research on blistering diseases are ongoing at Penn Dermatology. Patients undergoing treatment for blistering diseases at Penn may be eligible to participate in research studies on a volunteer basis, including infliximab in pemphigus.