Melkersson-Rosenthal Syndrome

Introduction to Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome (MRS) is a rare neurological disorder characterized by a triad of symptoms: recurrent facial palsy, recurrent or persistent orofacial swelling, and fissured tongue (lingua plicata). It is considered a granulomatous disease of unknown etiology.

Key points:

  • Incidence: Rare, exact prevalence unknown (estimated 0.08% of the population)
  • Age of onset: Can occur at any age, but typically presents in young adulthood (second to third decade)
  • Gender distribution: Slight female predominance
  • Etiology: Unknown, but suspected to involve genetic, immunologic, and environmental factors
  • Inheritance: Sporadic in most cases, but familial cases with autosomal dominant inheritance have been reported

Clinical Features of Melkersson-Rosenthal Syndrome

The classic triad of MRS includes:

  1. Recurrent facial palsy:
    • Unilateral or bilateral
    • May be partial or complete
    • Frequency and duration of episodes vary
  2. Orofacial edema:
    • Recurrent or persistent swelling
    • Most commonly affects the lips (cheilitis granulomatosa)
    • Can also involve cheeks, eyelids, and forehead
    • May be firm, non-pitting, and painless
  3. Fissured tongue (lingua plicata):
    • Deep grooves or fissures on the dorsal surface of the tongue
    • Present in about 30-40% of cases

Additional features may include:

  • Migraine-like headaches
  • Trigeminal neuralgia
  • Ocular symptoms (e.g., blepharitis, keratitis)
  • Autonomic disturbances
  • Psychoemotional changes

Note: The complete triad is present in only 8-25% of cases. Monosymptomatic and oligosymptomatic forms are more common.

Diagnosis of Melkersson-Rosenthal Syndrome

Diagnosis of MRS is primarily clinical and can be challenging due to its rarity and variable presentation:

  1. Clinical evaluation:
    • Detailed history of symptoms and their progression
    • Physical examination, including neurological assessment
    • Evaluation of facial nerve function
    • Oral and lingual examination
  2. Histopathology:
    • Biopsy of affected tissue (typically lip or facial skin)
    • Characteristic findings: non-caseating granulomas, lymphedema, and perivascular lymphocytic infiltration
  3. Imaging studies:
    • MRI to evaluate facial nerve and soft tissue involvement
    • CT scan to assess bony changes in chronic cases
  4. Laboratory tests:
    • Complete blood count, ESR, CRP to rule out systemic inflammation
    • Serum ACE levels to exclude sarcoidosis
    • Thyroid function tests
    • Screening for Crohn's disease in cases with predominant oral involvement
  5. Differential diagnosis:
    • Bell's palsy
    • Angioedema
    • Orofacial granulomatosis
    • Crohn's disease with oral involvement
    • Sarcoidosis
    • Tuberculosis

Management of Melkersson-Rosenthal Syndrome

Treatment of MRS is challenging and often empirical, aimed at managing symptoms and preventing complications:

  1. Pharmacological interventions:
    • Corticosteroids:
      • Systemic (e.g., prednisone) for acute exacerbations
      • Intralesional injections (triamcinolone) for localized edema
    • Immunosuppressants:
      • Methotrexate, azathioprine, or mycophenolate mofetil for refractory cases
    • Antibiotics:
      • Tetracyclines (e.g., minocycline) for their anti-inflammatory properties
    • Tumor Necrosis Factor (TNF) inhibitors:
      • Infliximab or adalimumab in severe, refractory cases
  2. Surgical interventions:
    • Cheiloplasty or facial plastic surgery for persistent facial swelling
    • Rarely, facial nerve decompression for recurrent palsy
  3. Supportive care:
    • Facial exercises and physical therapy for facial palsy
    • Eye care if eyelid closure is affected
    • Nutritional support if oral intake is compromised
  4. Management of associated conditions:
    • Treatment of migraines or trigeminal neuralgia if present
    • Psychological support for patients dealing with facial disfigurement

Prognosis of Melkersson-Rosenthal Syndrome

The prognosis of MRS is variable and often unpredictable:

  • Course of disease:
    • Chronic and relapsing-remitting in nature
    • Some patients may experience spontaneous remission
    • Others may have persistent symptoms despite treatment
  • Facial palsy:
    • Often resolves completely between episodes
    • Risk of residual weakness increases with recurrent episodes
  • Orofacial edema:
    • May become permanent if left untreated
    • Early intervention can prevent persistent swelling
  • Quality of life:
    • Can be significantly impacted, especially in cases with visible facial changes
    • Psychosocial support is often necessary
  • Long-term outlook:
    • No cure currently available
    • Management focuses on symptom control and prevention of complications
    • Regular follow-up is essential to monitor disease progression and adjust treatment


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