Melkersson-Rosenthal Syndrome

Rare, neuro-mucocutaneous disorder of unknown etiology
 
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Diagnostic triad (present in only 25% of cases):
  • Relapsing facial nerve palsy (VII, V, VIII)
  • Fissured tongue
 
  • Oligosymptomatic or monosymptomatic forms are more frequent than the full triad
  • Most common monosymptomatic form: recurrent lip swelling (Miescher’s syndrome or Miescher’s chelitis granulomatosa) - 74% of cases
  • Epidemiology
    • Incidence: 0,08% in the general population
    • Onset from early childhood to late adulthood
      • As early as age 3 years
      • As late as age 78 years
    • More common in young adults (average age of onset 32 years)
    • Orofacial herpes may precede onset
  • Etiology
    • Genetics - inconclusive data about link with HLA antigens and inheritance patterns for subsets of the disease
    • Food allergy
      • Food addictives may cause, trigger or exacerbate
      • 60% are atopic (eczema + high IgE levels)
    • Allergy to dental material - no conclusive evidence
    • Infection - Mycobacterium tuberculosis, mycobacterium paratuberculosis, saccharomyces cerevisiae and Borrelia burgdorferi
    • Immunological
      • No single antigen incriminated
      • Random influx of inflammatory cells
      • Delayed hypersensitivity reaction rather than reaction to superantigen
  • Clinical presentation
    • The first episode of lip edema usually subsides completely in hours or days
    • After recurrent attacks, swelling may persist and slowly increase, eventually becoming permanent
    • Recurrences can occur after days to years
    • Fissured tongue present since birth in some patients
      • Loss of the sense of taste and decreased salivary gland secretion
    • Attacks sometimes are accompanied by fever and mild constitutional symptoms (eg. headache, visual disturbances)
  • Histopathology
    • Histologic changes are not always conspicuous
    • Needs to be incisional biopsy, not punch
    • Infiltrate becomes denser and pleiomorphic
    • Small, focal, noncaseating, epithelioid granulomas are formed (indistinguishable from Crohn disease or sarcoidosis)
    • Small granulomas occur in the cervical lymph nodes
    • Submucosal chronic lymphohistiocytic inflammation with many Th1 and mononuclear IL1 producing cells
    • Large active dendritic B cells
    • Inflammatory response probably mediated by TNF alpha and protease-activated receptors (PARs), matrix metalloproteinases (MMPs) and cyclo-oxygenases (COXs)
  • Treatment
    • Often unsatisfactory
    • Indentification and avoidance of suspicious allegens
      • Positive patch testing in up to 40%; half benefit from allergen exclusion
    • Implementing a cinnamon and benzoate free diet helps 54-74% of patients
    • Daily compression using specialized devices, potentially worn overnight, can reduce lip edema
    • Intralesional corticosteroids: beneficial for some patients, particularly when used alongside with antibiotics, eg. oral metronidazole
    • Oral corticosteroids (first line)
    • Methotrexate and immunosuppresants (second line)
    • Combination therapies:
      • Intralesional pingyangmycin combined with dexamethasone reported anecdotally as effective
      • Reduction cheiloplasty with intralesional triamcinolone; best results observed when combined with systemic tetracycline → prevention of recurrences
    • Nerve decompression → effective for recurrent facial nerve palsy