Cicatricial pemphigoid is a rare, chronic autoimmune disease causing blistering lesions on the body’s mucous membranes and sometimes the skin. Also known as mucous membrane pemphigoid, its name comes from “cicatrix,” which means scar, because the blisters heal with scarring. This progressive scarring is a distinguishing feature that can lead to significant complications in affected areas.
Areas of the Body Affected and Symptoms
The manifestations of cicatricial pemphigoid vary, with the oral cavity being the most common site. Individuals often experience painful sores and erosions on the gums and inner cheeks. This can present as desquamative gingivitis, where the gums’ outer layers peel away, exposing inflamed tissue and making eating and speaking difficult.
Ocular involvement, termed ocular cicatricial pemphigoid, can be particularly serious. It begins with symptoms resembling conjunctivitis, such as redness, burning, and a gritty sensation. As inflammation persists, scarring can cause the conjunctiva to shrink. This can lead to adhesions known as symblepharon, where the eyelid scars to the eyeball, and may result in vision loss if not addressed.
Other mucous membranes can also be affected. The nasal passages may develop crusting, obstruction, and nosebleeds. Involvement of the pharynx or larynx can cause hoarseness and difficulty swallowing. The genital and anal regions can also develop painful erosions and scarring that may impair function.
Skin involvement occurs in up to a third of patients. Tense blisters may form on the head, neck, and areas prone to trauma. These can rupture, leaving erosions that heal with scarring. Involvement of the scalp can lead to hair loss, known as alopecia.
The Autoimmune Cause
Cicatricial pemphigoid is an autoimmune disorder where the body’s immune system mistakenly attacks its own tissues. The immune system produces autoantibodies that target proteins within the basement membrane zone. This zone is a network of proteins that anchors the outer layer of the skin or mucous membrane (epidermis) to the underlying layer (dermis).
When autoantibodies bind to these proteins, they trigger an inflammatory cascade that disrupts the connection between tissue layers. This disruption leads to the formation of a separation, or blister. The subsequent healing process results in the characteristic scarring of the condition.
The precise trigger for this autoimmune response is not fully understood. It is not a contagious disease and cannot be passed from one person to another. The mechanism involves a failure of the immune system to recognize its own components, leading to an attack on structures that maintain tissue integrity.
Diagnostic Procedures
A definitive diagnosis begins with a clinical evaluation by a specialist who recognizes the pattern of blistering and scarring. To confirm the suspicion, a biopsy of affected tissue is performed. A small sample is taken from the edge of a new blister for laboratory analysis.
The primary diagnostic test on this tissue sample is direct immunofluorescence (DIF), considered the gold standard. This technique uses fluorescent dyes to identify autoantibodies that have bound to the basement membrane zone. A positive result shows a linear deposit of these antibodies, confirming the autoimmune attack.
In addition to a tissue biopsy, blood tests may support the diagnosis. A test called indirect immunofluorescence can detect autoantibodies circulating in the bloodstream. Finding these circulating antibodies provides complementary evidence for the diagnosis.
Management and Treatment Approaches
The primary goals of managing cicatricial pemphigoid are to halt inflammation, prevent new blisters, and minimize scarring to preserve function. Treatment plans are tailored to the disease’s severity and the areas affected. The approach involves medications that suppress the body’s overactive immune response.
For initial control of inflammation in severe cases, systemic corticosteroids like prednisone are used. To avoid the long-term side effects of steroids, other immunosuppressive medications are introduced for long-term management. Drugs such as dapsone, mycophenolate mofetil, or azathioprine may be used to keep the condition in remission, while biologic therapies like rituximab may be considered.
Topical treatments can also be beneficial, particularly for milder cases or as a supplement to other therapies. High-potency topical steroids can be applied to oral or skin lesions to reduce local inflammation. For ocular disease, specialized eye drops containing anti-inflammatory agents are used to manage symptoms and prevent scarring.
Effective management requires a collaborative approach from a team of specialists. This team may include a dermatologist, an ophthalmologist for eye care, and a dentist or oral medicine specialist for mouth lesions. Coordinated care among these professionals helps address the diverse symptoms and prevent long-term complications.