An Overview of Melkersson Rosenthal Syndrome

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Melkersson Rosenthal syndrome is a rare neurological condition which causes muscular changes related to the face. The primary symptom of Melkersson Rosenthal syndrome is permanent facial swelling and paralysis. This is mainly notable in one or both of the lips. A fissured tongue is also present in most people with this condition. This is an incredibly rare condition, with only 300 cases reported. Many cases of Melkersson Rosenthal syndrome go unreported due to the absence of facial palsy. This often makes the condition difficult to detect and fully diagnose, so the true prevalence is unknown. Melkersson Rosenthal syndrome begins in young adulthood and is seen more in females than in males.

Symptoms

Individuals with Melkersson Rosenthal syndrome experience three primary symptoms:

Facial paralysis is also often associated with this condition. However, this symptom is only present in about 30% of individuals who have Melkersson Rosenthal syndrome. Paralysis may affect one or both sides of the face and can be episodic. There are some instances where this paralysis is permanent after the first episode.

Excessive swelling of the lips is a more specific symptom called granulomatous cheilitis, which may be present in other neurological conditions.

A fissured tongue is characterized by deep grooves and waves on the surface of the tongue which makes the tongue look wrinkled. About 20% to 40% of individuals with this condition experience a fissured tongue.

Facial swelling typically affects all parts of the face and may lessen after several hours or several days. However, swelling episodes later in the course of the diagnosis are more severe and typically become permanent. When an individual experiences an episode of facial swelling, this symptom may be accompanied by a fever, headache, and vision changes.

Causes

Many known cases of Melkersson Rosenthal syndrome are present in the same family, which has led researchers to believe this condition is genetic in nature.

Despite the belief that Melkersson Rosenthal syndrome is genetic, there has not been enough research done to determine which gene has mutated to cause this condition.

There is also a link between Melkersson Rosenthal syndrome along with Crohn’s disease (an inflammatory digestive disorder) and sarcoidosis (an inflammatory condition affecting several large organ systems). Each of these conditions has been known to have some symptoms which mimic those of Melkersson Rosenthal syndrome.

This condition is also similar to angioedema, which has a strong allergen component. In light of this, more recent research points toward dietary preferences as being a contributing factor to developing this condition, as such symptoms mimic those of a food allergy.

Diagnosis

A diagnosis of Melkersson Rosenthal syndrome should be carefully made after a physical examination, thorough medication review, medical history, laboratory testing, and neurological testing. This evaluation process should include a closer look into ruling out conditions such as Crohn’s disease, Bell’s palsy, angioedema, food allergies and allergic reactions, and sarcoidosis. Each of these conditions often has similar symptoms and Melkersson Rosenthal syndrome may be mistaken for one of such conditions.

A biopsy of the lip, skin, and/or mucosa is often required to make a diagnosis of Melkersson Rosenthal syndrome. This is a tissue test which will not only assist with identifying any neurological involvement but also will assist in determining appropriate treatments.

Treatment

In mild cases of Melkersson Rosenthal syndrome, symptoms resolve without any treatment. Individuals with these mild cases often experience several episodes over the course of one or more years.

Most episodes are long-lasting with the potential for permanent symptoms if no course of action is taken.

Common treatments for Melkersson Rosenthal syndrome are:

All of these pharmaceutical treatments are meant to reduce swelling in the face, which may potentially relieve related symptoms such as tongue fissures.

Immunosuppressive medications may also be recommended to stop any immune system involvement from further increasing facial swelling.

Therapy such as massage techniques are used to redistribute the internal fluids causing swelling.

Electrical stimulation is another method used to reduce pain resulting from swelling. Both of these are short-term treatment options used to improve quality of life in lieu of more invasive treatment techniques.

Surgery complemented with radiation therapy may be recommended in severe cases, to reduce swelling and pressure on the facial nerve. This is often a popular option for conditions so severe that swelling majorly interferes with vital functions such as speaking, breathing, and swallowing.

Surgery is a relatively new treatment for Melkersson Rosenthal syndrome and there is little research regarding its effectiveness, either long-term or short-term.

Once having a treatment to resolve your symptoms, it is important to maintain regular doctor’s visits and remain aware of symptoms which may increase as time goes on.

A Word From Verywell

Melkersson Rosenthal syndrome may cause symptoms which impact quality of life and function, in severe cases. Some individuals are able to cope with intermittent episodes over the course of several years.

However, if you are one of the individuals who develop permanent symptoms which impact your quality of life, mental health, and ability to engage in daily tasks such as swallowing, speaking, and breathing, you should consult your doctor. A physician will be able to point you toward a specialist who may determine surgery is the best option for you.

Joining a support group and staying emotionally healthy is another way to improve your ability to cope with living with a rare, chronic illness.

Despite receiving treatment, some symptoms may not entirely resolve. As always, maintaining a positive outlook and seeking support with assistance for your mental health and emotional response to this condition is of vast importance.

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Article Sources

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  1. National Organization for Rare Disorders. Melkersson Rosenthal syndrome. Updated 2007.

  2. Cancian M, Giovannini S, Angelini A, et al. Melkersson-Rosenthal syndrome: A case report of a rare disease with overlapping features. Allergy, Asthma, & Clinical Immunology. 2019;15(1). doi:10.1186/s13223-018-0316-z

  3. National Institute of Neurological Disorders and Stroke. Melkersson-Rosenthal syndrome information page. Updated March 27, 2019.