Melkersson Rosenthal Syndrome

What is Melkersson Rosenthal syndrome?

Melkersson Rosenthal Syndrome is a rare neurological condition which causes periodic, extensive orofacial inflammatory conditionsAlong with orofacial inflammation, other included classic characteristic features are facial nerve palsy, lips (one or both) inflammation, and fissured tongue.

The symptoms are exacerbated and recurrent onset is common. All the included symptoms may not be present in every patient, some may have one or two symptoms. The pattern of facial palsy is as similar as Bell’s palsy¹.

Symptoms

The following are common symptoms associated with Melkersson-Rosenthal syndrome:

Inflammation in the upper lip and lower lip (sometimes only one lip get swelling). In the case of an episodic event of an inflammatory condition, the subsequent inflammatory condition becomes worse. Along with inflammatory condition cracking and discoloration of the lips may appear, which can even cause pain.

• Both or only one side cheek swelled
• Swelling of the eyelids
• Rarely one-sided scalp also swelled
• Episodic fever, headache, and eye-sight disturbance may develop in some patients
• Congenital fissured tongue is common in 20-40 percent affected individual.
• Facial palsy is another frequently occur symptom, almost 30 to 79 percent cases it has been noticed.
• Dysautonomia (Malfunctioning of autoimmune disorder) and Lymphadenopathy (swelling of the lymph nodes)

At the initial stage, all these above-mentioned symptoms may disappear within hours or day, but in recurrent episodes, the condition gradually becomes worse and become a undeviating disorder^1,2,3,4.

Causes

The exact cause of development of Melkersson-Rosenthal syndrome is not known. But it has been expected that abnormality in genetic factor may involve in the development of Melkersson-Rosenthal syndrome, as familial history observed in some cases. Crohn’s disease or sarcoidosis and food allergy are different conditions, which also have Melkersson-Rosenthal syndrome symptoms.

Therefore, there may be some association between these diseases. Other certain factors also identified which may have involvement in the development of Melkersson-Rosenthal syndrome. These factors are infections, neurotropic factors, autoimmunity and atopy (a genetic abnormality that stimulates allergy).

Some identified infectious conditions like oral candidiasis, oral herpes, lymphogranuloma venereum and mycobacterium leprae attribute in the development of Melkersson-Rosenthal syndrome. Researchers also found that Mycobacterium avium subspecies paratuberculosis (MAP) is an abnormal DNA sequence found in Melkersson-Rosenthal syndrome.

Disorder of vasomotor functioning causes inflammation and facial nerve (7th cranial nerve) compression causes facial paralysis.  C1 inhibitor (C1-inh ) is a complement system, which prevents spontaneous activation and C1-inh deficiency may act as a contributory factor for orofacial swelling.

Some experts believe that lymphatic drainage impairment (lymphoscintigraphy) may cause the inflammatory condition in Melkersson-Rosenthal syndrome. Some cranial nerves like olfactory, auditory, glossopharyngeal and hypoglossal nerves are involved in the genesis of Melkersson-Rosenthal syndrome. Although these factors involvement is not studied completely^1,3.

Diagnosis

The diagnosis of Melkersson-Rosenthal syndrome is depending upon physical examination and thorough knowledge of patient history. The symptomatic conditions associated with Melkersson-Rosenthal syndrome is often associated with other connective tissue disorder or other inflammatory conditions like Crohn’s disease, food allergy, sarcoidosis, and saprodontia.

Therefore, it sometimes requires performing a specialized laboratory test to detect the underlying cause. In some cases, a biopsy test may conduct by taking a sample from inflamed lips to exclude the possibility of mutagenic involvement.

Some differential diagnosis for thyroid orbitopathy, allergy, atopy, angioedema, bacterial, viral or filarial infections, systemic lupus erythematosus, dermatomyositis, bell’s palsy can also perform in the diagnosis of Melkersson-Rosenthal syndrome^1,3,4.

Treatment

In Melkersson-Rosenthal syndrome, the initial onset of symptoms are self-limiting or disappear within a certain period. But immediate medical attention requires at the initial stage. Because subsequent episodes worsen the symptoms and that may persist for prolong period.

The treatment of the underlying cause of Melkersson-Rosenthal syndrome is difficult, as etiopathogenesis of this disease is unclear. Some treatments are applied to treat the affected patients, these are as follows:

• Corticosteroid injections may administer through intravenous or subcutaneous route.
• Intralesional or topical application of Corticosteroids may also recommend by some experts for certain individuals
• Intralesional triamcinolone is effective and safe in facial inflammatory condition
• Some experts also recommended combination therapy of steroids and clofazamine, minocycline, non-steroidal anti-inflammatory drugs and thalidomide
• Surgical interventions are applied for correction of compressed facial nerve.
• In some cases, doctors also prefer to give radiation therapy to reduce the orofacial swelling^1,3,4.

References

1. Melkersson Rosenthal Syndrome; national Organization for Rare Syndrome; Retrieve from https://rarediseases.org/rare-diseases/melkersson-rosenthal-syndrome/
2. Rogers RS; Melkersson-Rosenthal syndrome and orofacial granulomatosis. Dermatol Clin. 1996 Apr;14(2):371-9. Retrieve from https://www.ncbi.nlm.nih.gov/pubmed/8725591
3. Soaham Dilip Desai, Priyanka Dumraliya, Deepak Mehta. Melkersson-Rosenthal syndrome. J Neurosci Rural Pract. 2014 Nov; 5(Suppl 1): S112–S114. doi:  10.4103/0976-3147.145258. Retrieve from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271373/
4. Melkersson Rosenthal Syndrome; Genetic and Rare Diseases Information Center; Retrieve from https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome