What is Melkersson-Rosenthal syndrome?

Melkersson-Rosenthal Syndrome: Definition and Clinical Features

Melkersson-Rosenthal syndrome (MRS) is a rare neuro-muco-cutaneous disorder characterized by the classic triad of recurrent orofacial edema (particularly lip swelling), relapsing facial paralysis, and fissured tongue. 1, 2

Core Clinical Manifestations

The complete triad is infrequently observed; monosymptomatic and oligosymptomatic variants are more common in clinical practice 3:

• Orofacial swelling presents as persistent or recurrent edema, typically manifesting as fissured, reddish-brown, swollen, non-pruritic lips or firm facial edema 1, 3
• Facial paralysis is clinically indistinguishable from Bell's palsy and follows a relapsing pattern 2, 3
• Fissured tongue (lingua plicata) occurs in one-third to one-half of patients and is the least common manifestation, though its presence significantly aids diagnosis 3

Epidemiology and Etiology

• MRS predominantly affects young adults with higher prevalence in males 1, 2
• The etiology remains unclear but likely involves multiple factors including genetic predisposition (family history documented in some cases), infectious triggers, and immune dysfunction 1, 2
• Some patients demonstrate elevated cerebrospinal fluid protein levels, increased serum immunoglobulin G, or associated reactive arthritis 2

Pathophysiology and Associated Conditions

MRS represents a form of orofacial granulomatosis, characterized histologically by non-caseating granulomatous inflammation 4, 3:

• The granulomas are sarcoidal in nature but not invariably present; their absence does not exclude the diagnosis 3
• Overlaps exist with other granulomatous diseases including sarcoidosis and Crohn's disease 5, 3
• Cheilitis granulomatosa of Miescher represents a monosymptomatic variant of MRS 3

Diagnostic Approach

Diagnosis requires clinical recognition of the characteristic features combined with histopathological confirmation when possible 1, 4:

• Neuroimaging (MRI or CT) may reveal facial soft-tissue thickening and swelling, assisting in diagnosis confirmation 2
• Histopathological examination demonstrating granulomatous cheilitis supports the diagnosis 4
• Laboratory evaluation may show elevated CSF protein or serum immunoglobulin levels in some patients 2

Differential Diagnosis

MRS must be distinguished from other causes of facial paralysis 6:

• Bell's palsy (idiopathic facial paralysis without other features)
• Lyme disease in endemic areas
• Sarcoidosis
• Crohn's disease with oral manifestations
• Infectious causes (bacterial meningitis, syphilis)
• Other rare conditions including Guillain-Barré syndrome and HIV/AIDS-related neuropathies 6

Treatment Strategies

Systemic corticosteroids represent the first-line treatment for acute exacerbations of MRS 2, 5:

• All patients in reported series responded to systemic corticosteroid therapy 2
• Intralesional triamcinolone acetonide combined with doxycycline has demonstrated excellent clinical response for oral manifestations 4
• For steroid-refractory cases, alternative immunosuppressive agents may be considered, including leflunomide, tacrolimus, or clofazimine (an anti-leprosy drug) 5
• Surgical intervention for persistent lip edema provides excellent cosmetic results in cases unresponsive to medical management 1

Clinical Course and Prognosis

• MRS follows a chronic, relapsing course with exacerbations and recurrences being common 3
• Early identification is essential to improve prognosis and prevent complications 4
• Long-term management requires ongoing surveillance for disease recurrence 1