The Five Senses and Beyond: The Encyclopedia of Perception - Jennifer L. Hellier 2017

Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome (MRS) is a neurological disorder and is quite rare. The disorder was first referred to as Melkersson-Rosenthal syndrome in 1949. Ernst Melkersson first described the link between facial swelling and paralysis of the face in 1928. Curt Rosenthal then acknowledged that the symptoms could be correlated with a fissured tongue. MRS is characterized by three main features that are often recurring: (1) swelling of the face and/or lips, which is also known as cheilitis granulomatosa, (2) facial paralysis or weakness, and (3) folds or creases in the tongue. Individuals can be affected with all three characteristic features at the same time, or can only have one or two of them at a time. Often, all three of the characteristic features are not seen together or at the same time. All three features are found in approximately 25 percent of the cases of MRS, while in 42 percent of cases, swelling of the face is the presenting feature and main finding. Facial paralysis or weakness is found in approximately 30 percent of individuals (Kang & Gaillard, n.d.). In 40 percent of cases, folds or creases in the tongue are seen (Scully, 2015). Facial paralysis or weakness can be on one or both sides of the face and may be permanent or temporary. MRS is a recurrent disease, and attacks can last from days to several years. MRS typically starts in childhood or early adulthood. Females are slightly more prone to being affected than males.

Causes

The exact cause of MRS is unknown; however, genetics, infectious agents, environmental factors such as allergies, and autoimmune diseases may play a role in the cause of MRS. In some cases, MRS is thought to be genetic, as the characteristic folded tongue has been described as a characteristic of these families. However, no specific gene has been recognized as causing MRS.

Signs and Symptoms

The signs and symptoms of MRS include the characteristic features previously described: facial swelling, facial paralysis or weakness, and folds or creases in the tongue. Typically, swelling is the first symptom that occurs and most often affects the upper lip. It is also usually the most prevailing sign. Other symptoms may include a reduced sense of taste and diminished secretion from the salivary glands. The lips also may become cracked and painful and might become discolored. Other symptoms including headaches, fever, and vision troubles are sometimes associated with MRS.

Diagnosis

Diagnosing MRS can be difficult, as the signs and symptoms may not always point toward MRS, and the characteristic findings do not always occur together. MRS can also emulate other diseases and conditions. A variety of tests are used to help diagnose MRS. These tests include the physical exam, history, laboratory tests, patch tests, imaging studies, histological studies, and biopsy. Many of these tests are performed to help rule out other diseases and conditions. Disorders related to MRS include Crohn’s disease, sarcoidosis, orofacial granulomatosis, and Bell’s palsy. History and physical examination can help to rule out other causes, as can many of the other tests. Imaging tests include radiographs, endoscopy, and positron emission tomography (PET) scans. Patch tests are used to rule out reactions to various substances such as metals and other antigens. Probably one of the most important tests to help exclude other causes and to conclusively diagnose MRS is a biopsy.

Treatment

Treatment for MRS is based mostly on symptoms. It can be hard to treat MRS, as no specific cause has been identified. The most common form of treatment is medication. Medications include nonsteroidal anti-inflammatory drugs (NSAIDS), corticosteroids, antibiotics, and immunosuppressants. The NSAIDS and corticosteroids are used to help reduce swelling. One study reported success in treatment by using intralesional triamcinolone (Rachisan et al., 2012). Surgery and radiation may also be necessary and recommended for treatment. These treatments are aimed toward swelling reduction. Surgery can be used to help facial paralysis or weakness by surgically decompressing the nerves. The efficacy of surgery and radiation has yet to be recognized. If MRS is left untreated, the attacks may start to last longer and occur more often. More research is needed to determine the best course of treatment for MRS. Research currently focuses on increasing awareness and knowledge of MRS. It also focuses on treatment and prevention of the disease as well as trying to find a cure.

Shannen McNamara

See also: Bell’s Palsy; Facial Nerve; National Organization for Rare Disorders; Taste System

Further Reading

Kang, Owen, & Frank Gaillard. (n.d.). Melkersson-Rosenthal syndrome. Radiopaedia Online. Retrieved from http://radiopaedia.org/articles/melkersson-rosenthal-syndrome

National Institute of Neurological Disorders and Stroke. (2011). NINDS Melkersson-Rosen-thal syndrome information page. Retrieved from http://www.ninds.nih.gov/disorders/melkersson/melkersson.htm

National Organization for Rare Disorders (NORD). (2015). Melkersson-Rosenthal syndrome. Retrieved from http://rarediseases.org/rare-diseases/melkersson-rosenthal-syndrome/

Rachisan, Andreea L., et al. (2012). Granulomatous cheilitis of Miescher: The diagnostic proof for a Melkersson-Rosenthal syndrome. Romanian Journal of Morphology and Embryology, 53(3), 851—853. Retrieved from http://www.rjme.ro/RJME/resources/files/531312851853.pdf

Scully, Crispian. (2015). Cheilitis granulomatosa. Retrieved from http://emedicine.medscape.com/article/1075333-overview