Melkersson-rosenthal syndrome G51.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 31.01.2023

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Synonym(s)

orofacial granulomatosis; Orofacial granulomatous

History
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Melkersson, 1928; Rosenthal, 1931

Definition
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Chronic, systemic, granulomatous inflammation with the classic symptom triad: Cheilitis granulomatosa, facial paresis, lingua plicata. The full picture of the syndrome is rare, more frequent are differently pronounced minus variants. That of E. Melkersson and C. Rosenthal is now increasingly referred to under the broader term"orofacial granulomatosis" and more generally defined as "recurrent uni- or bilateral orofacial swelling with cranial nerve dysfunction or paresis".

Occurrence/Epidemiology
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The incidence of Melkersson-Rosenthal syndrome (MRS) in adults is reported to be 1:1250 (Ziem et al. 2000). In children, the full-blown MRS is rare.

Etiopathogenesis
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Unknown. Discussed:

  • Constitutional anomaly, hereditary or acquired disorder of the autonomic defense system, inflammatory, possibly infectious allergic reactions to different antigens.
  • Familial occurrence is reported in about 30% of patients (Feng et al. 2014). An autosomal dominant mode of inheritance is discussed. Possibly, the responsible gene is located on chromosome 9p11.

Manifestation
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The average age at first manifestation is 14.1 years (Feng et al 2014).

Clinical features
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The full-blown syndrome is observed only in a minority of patients in larger collectives. Monosymptomatic and oligosymptomatic cases are the rule (>80%); they are also found as indicative initial manifestations.

Typical is a variable course of symptoms with circumscribed facial swelling, mostly lip swelling (initially recurrent, later persistent, mostly unilateral) and facial paresis. The changes are functionally and cosmetically disturbing for the patient, and sometimes painful.

  • Circumscribed facial swelling:
  • Facial nerve paresis (in 19.4% of cases): Mostly unilateral, in 25% of cases bilateral, always of the peripheral type.
  • Lingua plicata in 54% of cases (normal population 13%). Assignment to cardinal symptoms is abandoned in recent years, has only indicator function.
  • Minorsymptoms: Due to frequent and constant occurrence they gain an important importance in diagnostics. One finds with descending frequency:
    • Crohn's disease (6.8%)
    • Migraine headache (5,7%)
    • Paresthesias in the swelling area
    • Lacrimal secretion disorders
    • Redness
    • Itching
    • Nausea/vomiting
    • Secretion disorders of the salivary glands or nasal mucosa
    • Dizziness
    • Tingling
    • facial sweating
    • Acroparesthesias
    • Feeling of heat
    • globus sensation in the throat
    • acoustic sensations.
    • systemic lupus erythematosus (2.3%)

Differential diagnosis
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Erysipelas recidivans: Characteristic history with the early erysipelas tetrad (fever, redness, painful swelling, acute lymphadenopathy). Laboratory: signs of inflammation.

Herpes simplex recidivans: Typical interval-like course with signs of evident herpes simplex on the skin.

Furuncle of the upper lip: Acute course with circumscribed dolent swelling. The tip of the abscess is often purulent.

Macrocheilia of other cause: No variable course. Mostly evident underlying diseases such as exfoliative cheilitides etc.

Facial paresis of other cause: not combined with other partial symptoms of Melkersson-Rosenthal syndrome.

Therapy
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The treatment is difficult and often unsuccessful.

External therapy
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The use of glucocorticoids intralesionally usually shows only temporary success and can be useful at the beginning of a relapse. This is done by intradermal injection of triamcinolone acetonide crystal suspension (e.g. Volon A diluted 1:1 with local anesthetics such as scandicain) once a month.

Internal therapy
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To date, there are no approved therapies for this disease. Unfortunately, there is a lack of reliable study results due to the rarity of the disease.

  • Improvements can be achieved with clofazimine (e.g. Lamprene). Early use in particular improves the chances of success, initially 100 mg/day p.o. for 10 days, then alternating 100 mg 3-4 times/week for 6 months, repeated after a 3-month break if necessary. If unsuccessful, dosage can be doubled.
  • Alternative (better therapeutic modality): Fumaric acid ester (e.g. Fumaderm®) in the usual dosage. There are own personal experiences about this therapy approach as well as some published casuistics (G. Hauck 2017). Remark: This therapy has to be planned over a period of >12 months!
  • Alternative: Permanent intake of non-steroidal anti-inflammatory drugs like ibuprofen (e.g. Ibuprofen Heumann 400-800 mg/day).
  • Alternative: Systemic glucocorticoids are often recommended, but in our experience show only moderate success. Prednisolone (e.g. Decortin H) initially 40-60 mg/day p.o. for 2-4 weeks, followed by slow dose reduction.
  • Alternative: Omalizumab (Nettis E et al. 2018).
  • Other procedures: Multiple therapeutic modalities with chloroquine, diuretics, DADPS, acetylsalicylic acid, nicotinic acid amide, and others have been described with equivocal success.

Operative therapie
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In the stage of persistent swellings, the operative reduction of the lip (lip reduction plastic surgery) is often the only possibility to achieve a permanent improvement.

Progression/forecast
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Thrustworthy, chronic, years-long, possibly life-long course. Quoad vitam good, quoad sanationem bad. Spontaneous remission possible.

Literature
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  1. Elias MK et al (2013) The Melkersson-Rosenthal syndrome: a retrospective study of biopsied cases. J Neurol 260:138-143
  2. Feng S et al (2014) Melkersson-Rosenthal syndrome: a retrospective study of 44 patients. Acta Otolaryngol 134:977-981
  3. Galdiero MR et al (2021) Orofacial granulomatosis: Clinical and therapeutic features in an Italian cohort and review of the literature. Allergy 76:2189-2200.

  4. Hauck G (2017) Fumaric acid ester therapy bie Melkersson-Rosenthal syndrome. Akt Dermatol 43: 459-460.
  5. Hornstein OP et al (1987) Classification and clinical variation of Melkersson-Rosenthal syndrome (MRS). Z Hautkr 62: 1453-1475
  6. Lüscher E (1949) Syndrome of Melkersson-Rosenthal. Schweiz Med Wochenschr 79: 1-3
  7. Melkersson E (1928) Ett fall av recidiverande facialispares i samband med angioneurotiskt ödem. Hygiea, Stockholm 90: 737-741
  8. Miescher G (1956) Cheilitis and pareitis granulomatosa without facial paresis in the presence of a lingua scrotalis. Dermatologica 112: 536
  9. Neuhofer J, Fritsch P (1984) Cheilitis granulomatosa (Melkersson-Rosenthal syndrome): Treatment with clofazimine. Dermatologist 35: 459-463
  10. Nettis E et al.(2018) A favorable response to omalizumab in a patient with cheilitis granulomatosa.
    J Allergy Clin Immunol Pract 6:1425-1426.
  11. Rosenthal C (1931) Clinical hereditary contribution to constitutional pathology. Common occurrence of recurrent familial facial palsy, angioneurotic facial edema and lingua plicata in arthritic families. Z Overall Neurol Psychiat 131: 475-501.
  12. Stosiek N et al (1991) Melkersson-Rosenthal syndrome - follow-up analysis of 73 patients (1968-1990). Z Hautkr 66: 18-24
  13. Sussman GL et al (1992) Melkersson-Rosenthal syndrome: clinical, pathologic, and therapeutic considerations. Ann Allergy 69: 187-194
  14. Tausch I et al (1992) Experience with clofazimine therapy of Melkersson-Rosenthal syndrome. Dermatologist 43: 194-198
  15. Shapiro M et al (2003) Melkersson-Rosenthal syndrome in the periocular area: a review of the literature and case report. Ann Plast Surg 50: 644-648
  16. van De Scheur MR et al (2003) Orofacial granulomatosis in a patient with Crohn's disease. J Am Acad Dermatol 49: 952-954
  17. van der Waal RI et al (2001) Cheilitis granulomatosa. J Eur Acad Dermatol Venereol. 15: 519-523.
  18. Volz A et al (2010) Surgical lip reduction plasty for refractory cheilitis granulomatosa. JDDG 8: 303-305
  19. Ziem PE et al.(2000) Melkersson-Rosenthal syndrome in childhood: a challenge in differential diagnosis and treatment. Br J Dermatol 143: 860-863.
  20. Zimmer WM et al. (1992) Orofacial manifestations of Melkersson-Rosenthal syndrome. A study of 42 patients and review of 220 cases from the literature. Oral Surg Oral Med Oral Pathol 74: 610-619

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Last updated on: 31.01.2023