MRS is a rare disorder that causes recurrent facial and mouth swelling, facial paralysis, and problems with your tongue. Treatment with corticosteroids and occasionally surgery may be helpful.
Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous syndrome, meaning that it affects the nervous system, mucous membranes, and skin.
MRS can cause paralysis of your facial muscles and swelling and changes of the skin and mucous membranes of your face, mouth, and tongue. Symptoms appear abruptly and tend to recur in episodes.
MRS is extremely rare, affecting an estimated
Three cardinal symptoms characterize MRS:
- orofacial (mouth, face, or jaw) swelling, most often painless swelling of the upper lip (most common symptom)
- episodes of facial paralysis of one or both sides of the face in 30% to 90% of cases
- fissured tongue (deep grooves on the surface of the tongue) in 30% to 70% of cases
Symptoms can flare at different times and last anywhere from hours to months. Rarely, they may become chronic, causing fibrosis (thickening and scarring) and disfiguration of facial features.
But MRS is highly variable. Research has shown that only about one-third of people with MRS have all three cardinal symptoms.
Even within the same family, there can be differences in:
- the age at which symptoms appear
- frequency and severity of symptoms
- response to treatment
People with MRS can also have other associated symptoms, like
Doctors remain uncertain of the precise cause of MRS, but they suspect several factors, including:
- Genetic predisposition: MRS can run in families, in some cases following an autosomal dominant inheritance pattern. But this is not always the case, and researchers have yet to identify a specific gene or genes causing MRS.
- Environmental triggers: Other factors may trigger MRS in susceptible people. For example, infections, allergens, and even hormones may play a role.
- Immune conditions: Biopsies show that MRS is a granulomatous condition. Granulomas are clusters of immune system cells. Autoimmune conditions like sarcoidosis and Crohn’s disease produce similar findings, and MRS can sometimes be associated with these diseases.
MRS is an extremely rare condition. It’s challenging to identify specific risk factors with limited data. Still, scientists think the presence of these risk factors can increase your chance of developing MRS:
- Family history: MRS appears to run in families, but so far, scientists haven’t found a common gene mutation.
- Age: Symptoms can begin as early as childhood but most frequently appear at age 25 to 40 years.
- Sex: A 2020 research review notes that MRS may be twice as common in people assigned female at birth.
- Certain autoimmune diseases: Research links MRS with granulomatous autoimmune diseases like sarcoidosis and Crohn’s disease.
If you suspect you may have MRS, a doctor will begin with a detailed symptom history. You’ll discuss any episodes of facial paralysis, lip and face swelling, and tongue symptoms. They may ask you about your family medical history. Next, they’ll perform a detailed physical examination focusing on the head and neck.
Depending on your individual experience, a doctor may recommend further testing to rule out other causes of your symptoms. This could include
- blood tests
- imaging studies like MRI
- nerve conduction tests
Consultation with the following specialists may be helpful:
- allergist or immunologist
- neurologist
- rheumatologist
- otolaryngologist
A biopsy of swollen facial tissue obtained during a symptom flare can be very helpful. In cases of MRS, the biopsy will show granulomas with live, active immune cells.
What can Melkersson-Rosenthal syndrome be mistaken for?
MRS is a rare disease. It’s easy to mistake its symptoms for other, more common conditions. For this reason, people with MRS have an average delay to diagnosis lasting 4 to 9 years.
Common mimics or MRS include:
- Bell’s palsy, a common cause of facial paralysis
- allergic or contact hypersensitivity reactions, which can produce facial and oral swelling
- acquired or hereditary angioedema, causing episodes of face or mouth swelling
- oral symptoms of other diseases, such as Crohn’s disease, sarcoidosis, or tuberculosis
Although there’s no cure for MRS, doctors can help you manage your symptoms.
Corticosteroids have historically been the mainstay of treatment in MRS. A short course of oral corticosteroids leads to improvement in 50% to 80% of cases and may also reduce relapse frequency.
In some cases, a doctor may add oral antibiotics to the steroid regimen to increase the anti-inflammatory effect.
If swelling in the face or mouth is the only symptom, a direct injection of corticosteroids into the affected area can be helpful.
A doctor might consider using other immunosuppressants if you also have other autoimmune conditions.
Less commonly, when facial weakness or oral swelling doesn’t go away, a doctor may recommend surgery to decompress the facial nerve or reduce the appearance of lip swelling.
The outlook for people with MRS is highly variable, just like the disease itself.
Most people with MRS will experience a pattern of symptom flares followed by periods of remission when there are no symptoms.
In some people, symptoms may eventually disappear. But in other cases, symptoms like facial swelling and weakness can become longer-lasting with each subsequent flare, eventually becoming permanent.
Age at symptom onset, severity and frequency of symptoms, response to treatment, and presence of other associated medical conditions can all affect your outlook. If you have MRS, a doctor can help you understand possible outcomes in your case.
Managing MRS can be challenging. Flare-ups can understandably affect your quality of life. But MRS is not a life threatening condition. Working with a multi-disciplinary team of specialists can help optimize your treatment plan.
MRS is a rare neuro-mucocutaneous disease causing episodes of swelling in the face and mouth, facial paralysis, and furrowed tongue.
The precise underlying cause of MRS is unknown, and the syndrome can be difficult to diagnose. The three hallmark symptoms of MRS usually do not appear at the same time, and there are other more common causes of each.
However, if you or your child have had two or more MRS symptoms at the same time or have had recurrent episodes of any one symptom, talk with a doctor about the possibility of MRS.
Although MRS is rare, treatment is available to help reduce the severity and frequency of symptom flares. Obtaining an accurate diagnosis helps scientists continue to research underlying causes, which could help lead to more effective future therapies.