Severe Pemphigus Vulgaris with Oral and Cutaneous Involvement: A Case Report

INTRODUCTION

Pemphigus comprises a group of rare, chronic, and potentially life-threatening autoimmune blistering disorders characterized by loss of keratinocyte adhesion (acantholysis) within the epidermis and mucous membranes, resulting in flaccid bullae and erosions.^[1] These disorders include several clinical subtypes, notably pemphigus vulgaris (PV), pemphigus foliaceus, IgA pemphigus, and paraneoplastic pemphigus, with PV being the most prevalent and clinically significant form.^[1]

Pemphigus vulgaris is mediated by pathogenic immunoglobulin G (IgG) autoantibodies directed primarily against desmoglein-3 and, in some cases, desmoglein-1key components of desmosomes responsible for maintaining epithelial integrity.^[2] The disease commonly presents initially with painful oral mucosal erosions, which may precede cutaneous involvement by weeks or months, often leading to delayed diagnosis.^[2] The chronic and relapsing course of PV significantly affects quality of life and may be associated with considerable morbidity if not promptly treated.^[2]

Accurate diagnosis of pemphigus requires a combination of clinical assessment, histopathological examination demonstrating suprabasal acantholysis, and immunologic confirmation using direct and indirect immunofluorescence as well as enzyme-linked immunosorbent assays for circulating anti-desmoglein antibodies.^[1,2] Early identification is essential to differentiate pemphigus from other vesiculobullous disorders and to initiate appropriate therapy.^[1,2]

Management of pemphigus has evolved considerably over recent decades. International expert consensus recommends systemic corticosteroids as first-line therapy, often combined with immunosuppressive agents or biologics to achieve disease control while minimizing long-term steroid toxicity.³ Rituximab, an anti-CD20 monoclonal antibody, has emerged as a highly effective treatment for moderate to severe pemphigus and is now recommended early in the disease course in appropriate patients.^[3] These advances have markedly improved disease outcomes and reduced mortality associated with pemphigus.^[3]

CASE REPORT

A 50-year-old woman presented with a three-year history of persistent oral ulcerations and recurrent skin blisters. The oral lesions involved multiple sites, including the buccal mucosa, gingiva, hard palate, and lower labial mucosa. The patient reported significant pain, difficulty swallowing, and impaired fluid intake. Over the course of 3 years, the lesions progressively worsened, resulting in generalized discomfort, pruritus, and interference with routine daily activities. She had previously sought dermatological care and was followed up, but noted minimal improvement. Her medical and family histories were unremarkable, with no history of autoimmune or dermatologic disorders in relatives.

Clinical examination

General physical examination revealed multiple flaccid bullae and erosions distributed over the trunk, extremities, and face [Figures 1 and 2]. Nikolsky’s sign was positive, indicating epidermal fragility. Pallor was observed in the palpebral conjunctiva and palmar creases. Vital signs were within normal limits: temperature 98.8°F, pulse 80 bpm, respiratory rate 14/min, and blood pressure 140/90 mmHg.

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Figure 1: Multiple flaccid bullae and erosions on the trunk and extremities at presentation.

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Figure 2: Erosions and ulcerations involving the trunk, showing positive Nikolsky’s sign.

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Oral examination revealed multiple ulcerations along the cervical margins of the teeth on the hard palate due to ruptured bullae [Figures 3 and 4]. Ulceration of the lower labial mucosa and desquamative gingivitis involving the lower gingiva were also noted. The patient reported severe pain, difficulty in mastication, and compromised oral intake, which significantly affected her nutritional status and quality of life.

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Figure 3: Desquamative gingivitis with associated oral mucosal erythema.

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Figure 4: Ulceration of the lower labial mucosa contributing to impaired oral intake and mastication.

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Management and outcome

Initial therapy consisted of oral cyclosporin 100 mg twice daily combined with oral prednisolone 16 mg twice daily and topical triamcinolone acetonide 0.01% applied two to three times daily. Multivitamin supplementation was provided to address nutritional deficiencies.

Following suboptimal initial response, the therapeutic regimen was modified to oral azathioprine 50 mg twice daily in combination with oral prednisolone 20 mg twice daily, with a gradual tapering schedule. Topical triamcinolone acetonide was continued for local symptom management, and supportive care included elemental iron supplementation and therapeutic mouthwash.

The patient showed significant clinical improvement over the subsequent weeks. Oral ulcerations decreased in size and number, desquamative gingivitis resolved, skin blisters and lesions of the lip completely healed with minimal residual erosions [Figures 5 and 6]. Pain, pruritus, and discomfort were substantially alleviated, allowing restoration of oral intake and improvement in daily functioning and overall quality of life. No major adverse effects from therapy were observed during follow-up.

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Figure 5: Healed lip lesions of Pemphigus with resolution of erosions and no new vesiculobullous activity.

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Figure 6: Resolution of oral ulcerations and desquamative gingivitis after therapeutic intervention, showing restored mucosal integrity.

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DISCUSSION

PV is a chronic autoimmune blistering disorder characterized by autoantibodies against desmogleins, leading to loss of epithelial adhesion. Oral mucosal involvement is frequently the earliest and most persistent manifestation, significantly affecting the patient's quality of life.^[4]

Systemic corticosteroids remain the cornerstone of PV management due to their rapid disease-controlling effect. However, long-term steroid use is associated with significant adverse effects, prompting the use of immunosuppressive agents as steroid-sparing therapies. Azathioprine, when used in combination with corticosteroids, has demonstrated effectiveness in achieving and maintaining remission in oral PV, with long-term studies supporting its safety and clinical efficacy.^[5]

Recent advances in understanding PV pathogenesis have led to the introduction of targeted biologic therapies. Rituximab, a B-cell-depleting monoclonal antibody, has shown superior remission rates, reduced relapse frequency, and lower cumulative corticosteroid requirements compared to conventional therapies.^[4,6] Consequently, rituximab is increasingly recommended as a first-line treatment in moderate to severe disease.

Adjunctive modalities such as intravenous immunoglobulin and immunoadsorption are valuable in refractory or rapidly progressive cases, providing a rapid reduction in circulating pathogenic antibodies.^[6,7] Overall, current management strategies emphasize individualized treatment aimed at early disease control, minimization of treatment-related morbidity, and sustained remission.^[8-10]

CONCLUSION

This case highlights the clinical course of severe pemphigus vulgaris with long-standing mucocutaneous involvement and underscores the importance of early recognition and histopathological confirmation. Effective disease control was achieved through systemic corticosteroids combined with immunomodulatory therapy, leading to significant clinical improvement and restoration of oral function. Individualized treatment planning, regular follow-up, and supportive care are essential for long-term disease control and prevention of complications.