Understanding Cicatricial Pemphigoid: Symptoms and Treatments

Cicatricial pemphigoid, also known as mucous membrane pemphigoid, is a rare chronic autoimmune disorder primarily affecting the mucous membranes and occasionally the skin. It is characterized by blistering lesions that can lead to significant scarring and functional impairment. This aims to elucidate the symptoms, causes, diagnosis, treatment and management strategies for this complex disease.

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Symptoms of Cicatricial Pemphigoid

The symptoms of cicatricial pemphigoid can vary widely depending on the affected areas. Here, we will detail the primary symptoms associated with this condition.

Oral Manifestations

Cicatricial pemphigoid frequently affects the oral cavity, leading to painful blisters and erosions on the gums, inner cheeks, and palate. These lesions can cause significant discomfort and may interfere with eating and speaking.

Ocular Involvement

Ocular cicatricial pemphigoid is particularly severe, often resulting in conjunctivitis, subconjunctival fibrosis, and symblepharon formation. If left untreated, it can progress to blindness due to corneal scarring and shrinkage of the conjunctiva.

Nasopharyngeal Symptoms

Lesions may also appear in the nasopharynx, causing pain, nasal obstruction, and epistaxis. Chronic inflammation can lead to scarring and stenosis of the nasal passages.

Genital and Anal Regions

Though less common, cicatricial pemphigoid can affect the genital and anal regions, causing painful erosions and scarring, which may lead to stenosis and functional impairment.

Cutaneous Manifestations

In some cases, the skin is involved, presenting with tense blisters that rupture easily, leading to erosions and subsequent scarring.

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Causes and Risk Factors

Autoimmune Mechanism

Cicatricial pemphigoid is an autoimmune disorder wherein the immune system erroneously targets the basement membrane zone of mucous membranes and skin. This immune attack leads to blister formation and subsequent scarring.

Genetic Predisposition

Genetic factors may play a role in the predisposition to cicatricial pemphigoid. Familial cases have been reported, suggesting a potential hereditary component.

Environmental Triggers

Certain environmental factors, such as infections, drugs, and trauma, can act as triggers, exacerbating the condition in genetically predisposed individuals.

Risk Factors

Risk factors for developing cicatricial pemphigoid include advanced age, with most cases occurring in individuals over the age of 60, and a higher prevalence in females compared to males.

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Diagnosis of Cicatricial Pemphigoid

Clinical Examination

A thorough clinical examination is crucial for diagnosing cicatricial pemphigoid. The presence of characteristic blisters and erosions, especially in the mucous membranes, can guide the clinician towards a potential diagnosis.

Histopathology

Biopsy and histopathological examination of lesional tissue are essential. The presence of subepidermal blisters with a predominance of inflammatory cells, particularly eosinophils, is indicative of cicatricial pemphigoid.

Direct Immunofluorescence

Direct immunofluorescence (DIF) testing of perilesional skin or mucosa is a gold standard diagnostic tool. It typically reveals linear deposition of IgG and C3 along the basement membrane zone.

Indirect Immunofluorescence

Indirect immunofluorescence (IIF) on salt-split skin can help distinguish cicatricial pemphigoid from other autoimmune blistering diseases. In cicatricial pemphigoid, autoantibodies usually bind to the epidermal side of the split.

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Treatment and Management

Corticosteroids

Topical and systemic corticosteroids are the mainstay of treatment for reducing inflammation and controlling disease activity. However, long-term use is associated with significant side effects.

Immunosuppressive Agents

Immunosuppressive agents such as azathioprine, mycophenolate mofetil, and cyclophosphamide are often used in conjunction with corticosteroids to achieve better disease control and reduce steroid dependency.

Biologic Therapies

Rituximab, an anti-CD20 monoclonal antibody, has shown promise in refractory cases of cicatricial pemphigoid. It helps by depleting B cells, thereby reducing autoantibody production.

Antibiotics

Tetracycline and doxycycline, with or without nicotinamide, can be effective in controlling mild to moderate disease activity due to their anti-inflammatory properties.

Surgical Interventions

In cases with significant ocular involvement, surgical interventions such as amniotic membrane transplantation or mucous membrane grafting may be necessary to preserve vision and prevent blindness.

Multidisciplinary Approach

Given the multisystem involvement of cicatricial pemphigoid, a multidisciplinary approach is often required. Collaboration between dermatologists, ophthalmologists, oral surgeons, and other specialists is crucial for comprehensive management.

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Complications and Long-Term Management

Scarring and Functional Impairment

The primary complication of cicatricial pemphigoid is scarring, which can lead to significant functional impairment, particularly in the eyes, mouth, and genital areas.

Regular Monitoring

Regular follow-up and monitoring are essential to assess disease activity, manage complications, and adjust treatment regimens as necessary.

Patient Education and Support

Educating patients about their condition, treatment options, and potential side effects is crucial for ensuring compliance and optimizing outcomes. Support groups and counseling can also provide valuable emotional support.

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Cicatricial Pemphigoid vs. Pemphigus Vulgaris

Pathophysiology

While both cicatricial pemphigoid and pemphigus vulgaris are autoimmune blistering diseases, they differ in their pathophysiology. Pemphigus vulgaris involves autoantibodies against desmogleins, which are components of desmosomes, leading to intraepidermal blisters.

Clinical Presentation

Pemphigus vulgaris typically presents with flaccid blisters and erosions on the skin and mucous membranes, whereas cicatricial pemphigoid primarily affects mucous membranes with tense blisters that result in scarring.

Histopathology and Immunofluorescence

Histopathologically, pemphigus vulgaris shows intraepidermal acantholysis, while cicatricial pemphigoid exhibits subepidermal blisters. Direct immunofluorescence in pemphigus vulgaris reveals intercellular IgG deposits, contrasting with the linear basement membrane deposition seen in cicatricial pemphigoid.