Acquired epidermolysis bullosa

Acquired Epidermolysis Bullosa Acquired Epidermolysis Bullosa (AEB) is a rare autoimmune blistering disorder characterized by the development of blisters and erosions on the skin and mucous membranes. Unlike inherited forms of epidermolysis bullosa, AEB is not present at birth but develops later in life, typically in adulthood.

Pathophysiology

AEB is caused by autoantibodies targeting components of the dermal-epidermal junction, particularly type VII collagen, which is a major component of the anchoring fibrils that secure the epidermis to the dermis. The binding of these autoantibodies leads to a separation between the epidermis and dermis, resulting in blister formation.

Clinical Presentation

Patients with AEB typically present with:

• Blisters and erosions: These can occur on any part of the body but are often found on trauma-prone areas such as the hands, feet, elbows, and knees.
• Mucosal involvement: Oral, esophageal, and other mucosal surfaces may also be affected, leading to painful erosions and potential complications such as dysphagia.
• Scarring and milia: Healing of blisters may result in scarring and the formation of milia, which are small, white cysts.

Diagnosis

The diagnosis of AEB is based on clinical examination, histopathological analysis, and immunological testing. Key diagnostic steps include:

• Skin biopsy: A biopsy of a blistered area can reveal subepidermal blistering.
• Direct immunofluorescence: This test detects the presence of IgG autoantibodies bound to the dermal-epidermal junction.
• Indirect immunofluorescence: Circulating autoantibodies can be detected in the patient's serum.

Differential Diagnosis

AEB must be differentiated from other blistering diseases, such as:

• Bullous pemphigoid
• Pemphigus vulgaris
• Inherited epidermolysis bullosa

Treatment

Management of AEB involves:

• Immunosuppressive therapy: Corticosteroids and other immunosuppressive agents such as azathioprine or mycophenolate mofetil are commonly used to reduce autoantibody production.
• Wound care: Proper wound care is essential to prevent infection and promote healing.
• Pain management: Analgesics may be necessary to manage pain associated with blistering and erosions.

Prognosis

The prognosis of AEB varies depending on the severity of the disease and the response to treatment. Some patients may achieve remission, while others may experience chronic relapsing disease.

See Also

• Epidermolysis bullosa
• Autoimmune blistering diseases

External Links

• National Organization for Rare Disorders
• Genetic and Rare Diseases Information Center

NIH genetic and rare disease info

• NIH info on Acquired epidermolysis bullosa

Acquired epidermolysis bullosa is a rare disease.