Melkersson-Rosenthal syndrome with facial swelling and palsy and associated diagnostic challenges: A case report

TL;DR

This case report describes a rare condition called Melkersson-Rosenthal syndrome in a young man, highlighting its incomplete symptoms and successful treatment with medication.

Contribution

The paper presents a rare case of MRS with incomplete clinical features and a successful treatment response.

Findings

The patient showed facial palsy and edema, but not the full triad of MRS symptoms.

Histopathology confirmed granulomatous cheilitis, supporting the MRS diagnosis.

Treatment with deflazacort, epinastine, and methotrexate led to a positive clinical response.

Abstract

Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous disorder characterized by recurrent orofacial edema, peripheral facial palsy and a fissured tongue, although the complete triad is rarely observed. The present study reports the case of a 22-year-old male patient who initially presented with facial paralysis, later developing cheek edema, dermatosis and systemic symptoms; the histopathological findings consistent with granulomatous cheilitis. Laboratory analyses revealed a low C1q level and positive antinuclear antibody. Based on clinical and biopsy findings, MRS was diagnosed. The patient responded well to a 6-month regimen of deflazacort, epinastine and methotrexate. On the whole, the present case report illustrates an incomplete, yet clinically significant form of MRS. Diagnosis is primarily clinical, supported by histology and exclusion of similar conditions. Treatment focuses on symptom control with corticosteroids; immunomodulators or biologics may be used in refractory cases. Early recognition is essential, even in the absence of the full triad.

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