Melkersson-Rosenthal syndrome

Last Updated: 2023-09-28

Author(s): Navarini A.A.

ICD11: 8B88.Y

Granulomatous orofacial inflammation, cheilitis granulomatosa, orofacial granulomatosis.

The first description was by Melkersson in 1928 and Rosenthal in 1931.

Melkersson-Rosenthal syndrome is a little-known disease that may be a reaction to hypersensitivity. In its early stages, the disease was characterised as a combination of repeated lip abnormalities, recurrent facial nerve palsies and a folded tongue. It is also described as "recurrent swelling in the orofacial area, unilateral or bilateral, accompanied by dysfunction or paralysis of cranial nerves."

The disease usually appears in the later second decade of life, but can also be found in children as young as five years. Some studies suggest an increased prevalence in females compared to males, whereas others have found no clear difference in gender distribution. Ethnic preferences have not been documented. In adults, the incidence is about 1:1250. In children, the full expression of the syndrome is rather rare.

The disease is associated with hypersensitivity reactions to certain foods and additives, especially benzoic acid and cinnamon. Other associated factors could be amalgam, Crohn's disease and sarcoidosis. If no clear cause is found, it is called idiopathic. Other factors discussed include a congenital abnormality, a genetic or acquired immune system disorder and possibly allergic reactions to various antigens. In about 30% of those affected, the syndrome runs in families. It is suspected that a specific gene on chromosome 9p11 may be responsible.

Typical symptoms are uneven, elastic swelling of the lips, redness, scaling and cracking. There is also facial swelling and neurological and ophthalmological signs. It is rare for all symptoms to occur simultaneously; usually single or a few symptoms present at the same time. Possible manifestations include:

  • Localised swelling of the face, especially the lips, and paralysis of the facial nerve.
  • Cheilitis granulomatosa as a common presentation. - Other symptoms may include swelling of the cheeks, eyelids, forehead, palate, gums, tongue and anogenital region.
  • Facial nerve palsy occurs in about 19.4% of cases.
  • A furrowed tongue is present in 54% of cases.
  • Additional signs may include Crohn's disease, migraine, paraesthesia and others.

Diagnosis requires a biopsy from a swollen area, such as the lip or mouth. This will detect non-necrotising granulomas. A skin test can help identify food allergies or other triggers. Elevated IgE levels and eosinophilia may also be seen in sufferers.

Although the disease is chronic and can lead to permanent facial changes and repeated facial nerve palsies, some patients experience improvement in their symptoms over time.

The syndrome shows a recurrent course. While some patients experience only one episode, others may experience irregular episodes. Permanent, irregular swellings may occur. Long-term consequences of paralysis of the facial nerve are possible.

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