Epidermolysis bullosa.

Epidermolysis bullosa is characterized by fragile skin and/or mucosal surfaces along with subsequent blistering, erosions, and scarring. It can occur anywhere on the body. The blistering occurs as a result of a facile separation of the cutaneous layers, which is attributable to either genetically faulty structural proteins or acquired autoantibodies against those proteins.

* The congenital variants (epidermolysis bullosa hereditaria) are classified according to their layer of separation (epidermal or dermal) and further subdivided according to the mode of inheritance.

* The acquired type (epidermolysis bullosa acquisita) is a chronic autoimmune disorder characterized by the presence of autoantibodies against type VII collagen, which make up the anchoring fibrils along the dermal-epidermal junction.

Management of both forms includes avoidance of skin trauma, careful wound care, prevention of infection, and good nutrition. Several medications have been tried, but epidermolysis bullosa remains very difficult to treat medically. Gene-replacement therapy is being investigated as a possible treatment for some types of the congenital variants.

We evaluated a 63-year-old woman with a diagnosis of a congenital variant of epidermolysis bullosa. Her manifestation included erosion and scarring along her posterior scalp (figure 1). She had experienced repeated episodes of blistering and erosion followed by scarring, which led to stenosis of her external auditory canals (figure 2) and subsequent bilateral conductive heating loss. She desired amplification, but her stenosis and skin erosion made her a poor candidate for hearing aids. She eventually underwent placement of a bone-anchored hearing aid on the right side.

[FIGURES 1-2 OMITTED]

James Lin, MD; Jose N. Fayad, MD