MRS is an uncommon condition that results in frequent swelling of the lips and face, facial paralysis, and tongue issues. Sometimes surgery and corticosteroid treatment can be beneficial.

As a rare neuro-mucocutaneous illness, Melkersson-Rosenthal syndrome (MRS) impacts the skin, mucous membranes, and neurological system.

MRS can result in alterations and swelling of the skin and mucous membranes of your mouth, tongue, and face, as well as paralysis of your facial muscles. Symptoms usually reoccur in episodes and come on suddenly.

With an estimated 0.08% of the population affected, MRS is incredibly uncommon. The age at the beginning, frequency, and intensity of symptoms might also differ significantly. People with MRS may have a considerable delay in receiving a proper diagnosis as a result of these circumstances.

What are the symptoms of Melkersson-Rosenthal syndrome?

MRS is characterized by three cardinal symptoms:

• The most common symptom of orofacial (mouth, face, or jaw) swelling is usually painless swelling of the upper lip.
• 30% to 90% of cases have episodes of facial paralysis affecting one or both sides of the face.
• 30% to 70% of instances have a fissured tongue, which is characterized by deep grooves on the tongue’s surface.

The duration of symptoms can range from hours to months, and they may flare up at different times. In rare cases, they could develop into chronic conditions that result in facial feature disfigurement and fibrosis, or thickening and scarring.

However, MRS is quite inconsistent. Only roughly one-third of MRS patients exhibit all three cardinal symptoms, according to research.

Differences may exist even within the same family in:

• The age at which symptoms start to show
• frequency and severity of symptoms
• response to treatment

Additionally, people with MRS may experience additional related symptoms, such as

• migraine
• dizziness
• eye problems
• issues with the ears, such as tinnitus or hearing loss

What causes Melkersson-Rosenthal syndrome?

Although the exact etiology of MRS is still unknown, doctors believe there are several potential causes, such as:

• Genetic predisposition: In certain situations, MRS may follow an autosomal dominant inheritance pattern and run in families. However, this isn’t always the case, and scientists haven’t yet pinpointed the gene or genes that cause MRS.
• Environmental triggers: In vulnerable individuals, MRS may be triggered by additional factors, such as hormones, allergens, or illnesses.
• Immune conditions: MRS is a granulomatous disease, according to biopsies. Clusters of immune system cells are called granulomas. Similar results are produced by autoimmune disorders such as Crohn’s disease and sarcoidosis, and MRS is occasionally linked to these conditions.

Who gets Melkersson-Rosenthal syndrome?

MRS is a very uncommon condition. With little information, it is difficult to pinpoint individual risk factors. However, researchers believe that having certain risk factors may make you more likely to get MRS:

• Family history: Even though MRS seems to run in families, researchers have not yet discovered a common gene mutation.
• Age: Although symptoms can start in childhood, they usually manifest between the ages of 25 and 40.
• Sex: MRS may be twice as likely in those who are assigned female at birth, according to a 2020 research review.
• Certain autoimmune diseases: MRS has been connected in studies to granulomatous autoimmune conditions such as Crohn’s disease and sarcoidosis.

How do doctors diagnose Melkersson-Rosenthal syndrome?

A doctor will start with a thorough history of your symptoms if you think you might have MRS. You will talk about any instances of facial paralysis, swelling of the face and lips, and symptoms related to the tongue. You can be questioned about your family’s medical history. They will then do a thorough physical examination, paying particular attention to the head and neck.

A doctor can suggest additional tests to rule out other possible reasons for your symptoms, depending on your particular situation.

 This could include

• imaging studies like MRI
• blood tests
• nerve conduction tests

Seeking advice from the following experts could be beneficial:

• rheumatologist
• otolaryngologist
• allergist or immunologist
• neurologist

During a flare-up of symptoms, a biopsy of swollen face tissue can be very beneficial. Granulomas containing live, active immune cells will be seen on biopsy in MRS instances.

What can Melkersson-Rosenthal syndrome be mistaken for?

MRS is an uncommon illness. Its symptoms are easily confused with those of other, more prevalent illnesses. Because of this, it takes an average of 4 to 9 years for someone with MRS to be diagnosed.

Typical MRS or mimics include:

• A common cause of facial paralysis is Bell’s palsy.
• Contact hypersensitivity reactions or allergies can cause swelling in the mouth and face.
• bouts of facial or oral swelling brought on by acquired or inherited angioedema
• oral manifestations of various illnesses, including TB, sarcoidosis, and Crohn’s disease

What is the treatment for Melkersson-Rosenthal syndrome?

MRS has no known cure, however, doctors can help you control your symptoms.

In the past, corticosteroids have been the cornerstone of care for MRS. 50% to 80% of patients improve with a brief course of oral corticosteroids, which may also lessen the likelihood of relapses.

To enhance the anti-inflammatory effect of the steroid regimen, a doctor may occasionally prescribe oral antibiotics.

A direct injection of corticosteroids into the afflicted area may be beneficial if the only symptom is swelling in the mouth or face.

If you also have other autoimmune diseases, your doctor may suggest different immunosuppressants.

Surgery to decompress the facial nerve or lessen the look of lip swelling is less frequently suggested by doctors when facial paralysis or oral edema persists.

What is the outlook for people with Melkersson-Rosenthal syndrome?

Like the illness itself, the prognosis for those who have MRS varies greatly.

The majority of MRS patients will go through phases of remission when their symptoms are absent, followed by flare-ups.

In certain individuals, symptoms may ultimately go away. In other situations, however, symptoms such as weakness and swelling of the face may worsen with each flare-up and eventually become irreversible.

Your outlook may be impacted by your age at symptom onset, the frequency and intensity of your symptoms, how well you respond to treatment, and whether you have any coexisting medical disorders. If you have MRS, a doctor can assist you in comprehending probable consequences in your instance.

Managing MRS can be hard. Flare-ups can naturally damage your quality of life. But MRS is not a life-threatening condition. Working with a multi-disciplinary team of professionals can assist optimize your treatment strategy.

Takeaway

Facial paralysis, wrinkled tongue, and facial and mouth enlargement are symptoms of MRS, a rare neuro-mucocutaneous condition.

The exact underlying cause of MRS is unknown, therefore diagnosing the illness can be challenging. There are other more frequent causes of each of the three MRS characteristic symptoms, and they typically do not manifest simultaneously.

A doctor should be consulted for the possibility of MRS if you or your child have experienced recurrent episodes of any one symptom or two or more MRS symptoms at the same time.

Despite the rarity of MRS, some treatments can help lessen the intensity and occurrence of symptom flares. Getting a correct diagnosis enables researchers to keep looking into the underlying causes, which may result in future treatments that are more successful.