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

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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Publication Details

Journal
Medicine International
Published
2025-12-31
DOI
https://doi.org/10.3892/mi.2025.294
Primary Topic
Autoimmune and Inflammatory Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

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

María Calvo Domínguez, Martha Pacheco Arenas, Anahí Parcero Tamay, Alina Sánchez Vázquez et al.
Medicine International
Autoimmune and Inflammatory Disorders
article

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

María Calvo Domínguez, Martha Pacheco Arenas, Anahí Parcero Tamay, Alina Sánchez Vázquez, Valeria Medrano Pichardo
article en

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.

Medicine InternationalVol. 6(1)
Tuxtla Gutierrez Institute of Technology (MX), KPJ Ampang Puteri Specialist Hospital (MY), Autonomous University of Tamaulipas (MX)
Instituto de Seguriidad y Servicios Sociales de los Trabadores del Estado
Reduced inequalities
Openalex Percentile: Top 29%
Autoimmune and Inflammatory Disorders
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