What are the other Names for this Condition? (Also known as/Synonyms)

• Cheilitis Granulomatosa
• Melkersson Syndrome
• MRS (Melkersson-Rosenthal Syndrome)

What is Melkersson-Rosenthal Syndrome? (Definition/Background Information)

• Melkersson-Rosenthal Syndrome (MRS) is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips, and the development of folds and furrows in the tongue
• Onset is in childhood or early adolescence. After recurrent attacks, swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration
• The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis

(Source: Melkersson-Rosenthal Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Melkersson-Rosenthal Syndrome? (Age and Sex Distribution)

• Melkersson-Rosenthal Syndrome is a rare disorder, with about 300 cases being reported worldwide
• The presentation of symptoms may be seen in children and adolescents. However, a furrowed tongue may be present at birth
• Both males and females may be affected. The condition is slightly more prevalent in females
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Melkersson-Rosenthal Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Melkersson-Rosenthal Syndrome can be inherited 
• Pre-existing conditions, such as Crohn’s disease or sarcoidosis, may increase the risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Melkersson-Rosenthal Syndrome? (Etiology)

• The cause of Melkersson-Rosenthal Syndrome is not clearly known, but the condition can run in families, and therefore, a genetic cause is suspected
• In addition, the disorder can be a symptom of other medical conditions, such as Crohn’s disease or sarcoidosis

What are the Signs and Symptoms of Melkersson-Rosenthal Syndrome?

The signs and symptoms of Melkersson-Rosenthal Syndrome may include:

• Abnormality of the eye
• Facial edema

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

• Cheilitis
• Inflammatory abnormality of the skin
• Mask-like facies
• Oligosacchariduria 
• Periorbital edema

Frequently present symptoms in 30-79% of the cases:

• Facial palsy
• Furrowed tongue
• Macroglossia

Occasionally present symptoms in 5-29% of the cases:

• Dysautonomia 
• Fever 
• Lymphadenopathy 
• Nystagmus

(Source: Melkersson-Rosenthal Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Melkersson-Rosenthal Syndrome Diagnosed?

Melkersson-Rosenthal Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Differential diagnosis to check if the affected individual may have Crohn’s disease or sarcoidosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Melkersson-Rosenthal Syndrome?

The complications of Melkersson-Rosenthal Syndrome may include:

• Impaired vision
• Loss of taste sensations
• Permanent facial palsy
• Low self-esteem due to swelling on lips and face
• Adversely affected quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Melkersson-Rosenthal Syndrome Treated?

The treatment for Melkersson-Rosenthal Syndrome is usually given to manage the signs and symptoms and any complications that develops. In some cases, the symptoms may resolve without treatment. In others, one or more of the following treatment measures may be necessary:

• Nonsteroidal anti-inflammatory drugs
• Corticosteroid injections 
• Antibiotics 
• Surgery and/or radiation to address abnormal lip swelling

How can Melkersson-Rosenthal Syndrome be Prevented?

• Currently, Melkersson-Rosenthal Syndrome may not be preventable, since the exact cause is not known
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Melkersson-Rosenthal Syndrome? (Outcomes/Resolutions)

• The prognosis of Melkersson-Rosenthal Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Melkersson-Rosenthal Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/