Melkersson-Rosenthal syndrome is an inflammatory disease. The disease belongs to the category of so-called orofacial granulomatoses. Melkersson-Rosenthal syndrome is usually characterized by a combination of three typical symptoms. These symptoms are, first, swelling of the lips, second, a so-called wrinkled tongue, and finally, peripheral facial paresis.
What is Melkersson-Rosenthal syndrome?
Melkersson-Rosenthal syndrome occurs in the majority of cases in young adult patients. It is also true that the disease occurs with a greater frequency in women than in men. Basically, the syndrome is an idiopathic inflammatory disease. The disease was named after two physicians, Ernst Melkersson and Curt Rosenthal. Melkersson-Rosenthal syndrome is principally characterized by the common occurrence of three major symptoms.
Causes
Basically, the exact causes for the development of Melkersson-Rosenthal syndrome have not yet been fully clarified according to the current state of medical knowledge. In principle, the disease represents a so-called granulomatous inflammatory disease. In some cases, affected patients show a connection to intolerances to various foods. In addition, Melkersson-Rosenthal syndrome may also occur in individuals with Crohn’s disease. The same is true for patients with sarcoidosis. Melkersson-Rosenthal syndrome is due to granulomatous inflammation.
Symptoms, complaints, and signs
In principle, Melkersson-Rosenthal syndrome is a relatively rare disease. It is classified as a granulomatous inflammation. In numerous cases, the onset of Melkersson-Rosenthal syndrome is in adolescence or early adulthood. The disease most frequently affects individuals between the ages of 20 and 40. The main symptoms of Melkersson-Rosenthal syndrome are granulomatous inflammatory processes and edematous swollen lips. In the majority of cases, the upper lip is affected by the typical swelling. Much more rarely, the swelling appears on both lips or exclusively on the lower lip. In addition, the palate or the cheek area of the affected patient may also be affected. Sometimes changes occur on the tongue, which then resembles a map in its appearance. It is also possible that the tongue becomes enlarged. In addition, in some cases paralysis of the facial nerves in the face appears. However, these sometimes appear months or even years after the swollen lips. Some patients experience neurologic symptoms such as meningitis or encephalitis. Peripheral facial nerve palsy takes the form of a sudden attack. Periods without any symptoms are also possible, followed by intervals of discomfort. The swelling of the lips is also called cheilitis granulomatosa in the context of Melkersson-Rosenthal syndrome. The swollen lips can be pressed in. If the swelling persists for a prolonged period, a fissure may form. The third typical symptom of Melkersson-Rosenthal syndrome, the wrinkled tongue, is also called lingua plicata. Deep furrows appear on the surface of the tongue, and fissures sometimes form. In addition, numerous patients show ulcers on the mucous membrane in the mouth. These may show a pronounced marginal rim, but in other cases appear merely as superficial aphthae. These ulcers are often accompanied by swelling or redness of the oral mucosa. In addition, swollen lymph nodes are palpable in the neck. Basically, the course and prognosis of Melkersson-Rosenthal syndrome are difficult to assess. In some cases, spontaneous remissions occur, and a protracted course of the disease is also possible. Some patients also suffer from recurrences. As a rule, Melkersson-Rosenthal syndrome is characterized by a relapsing course, with the swollen lips usually resolving. During the course of the disease, tissue may increase, which is no longer capable of regression.
Diagnosis and course of the disease
The establishment of the diagnosis of Melkersson-Rosenthal syndrome is based on various investigative methods. The typical clinical appearance of the disease easily leads to a tentative diagnosis, which is corroborated by further measures. To diagnose Melkersson-Rosenthal syndrome with certainty, biopsies of skin or mucous membrane as well as laboratory diagnostics are possible, for example. Among other things, the C-reactive protein is determined in the blood. It is important to exclude Crohn’s disease and sarcoidosis as part of the differential diagnosis. X-ray examinations and colonoscopy are usually used for this purpose.
Complications
Melkersson-Rosenthal syndrome primarily causes swelling and, consequently, paralysis of the face. In particular, the lips and tongue are swollen, and various disturbances of sensitivity occur throughout the face. The patient’s quality of life is considerably reduced and limited by these swellings. In many cases, the affected persons are thus dependent on the help of other people in their daily lives. In particular, the intake of food and liquids can be impaired by Melkersson-Rosenthal syndrome. Restrictions in speech may also occur. There is usually no self-healing, so that those affected are dependent on medical treatment. Furthermore, the onset of symptoms is very sudden, so that it is not uncommon for psychological upsets or severe depression to occur. The symptoms of Melkersson-Rosenthal syndrome can be limited with the help of medication. However, a positive course of the disease cannot be guaranteed in every case. In some cases, the paralyses cannot be completely resolved, so that those affected have to live with various limitations. Life expectancy itself is not usually affected by Melkersson-Rosenthal syndrome.
When should you see a doctor?
Visual changes in the lips are a sign of a health condition. A visit to the doctor is necessary as soon as there is repeated or persistent swelling of the lips. If the affected person suffers from inflammation, an internal irritability or a slightly increased body temperature, a clarification of the complaints should be made. Sensitivity disorders of the lips, a feeling of numbness or hypersensitivity should be investigated and treated. If food intake is refused or there is an unwanted loss of weight, the affected person needs medical help. If additional emotional problems or mental irregularities arise as a result of the visual abnormalities, a visit to the doctor is advisable. In the event of social withdrawal, mood swings or depressive phases, as well as other behavioral abnormalities, a check-up visit to a doctor is recommended. In case of redness of the oral mucosa, aphthae or other changes in the appearance of the skin in the mouth, a doctor is needed. Pain, regression of the gums or bleeding in the mouth indicate a disease that should be diagnosed and treated. In many cases, there is spontaneous healing. Nevertheless, a visit to the doctor should be made, since a renewed development of the complaints will most likely occur after a few weeks or months. If there are swollen lymphs, a formation of palpable lumps on the neck, or a general feeling of malaise, a doctor is needed.
Treatment and therapy
Currently, no causal therapy for Melkersson-Rosenthal syndrome exists. Steroids such as cortisone are usually used. Glucocorticoids or NSAIDs are administered to relieve symptoms. Immunosuppression using clofazimine, azathioprine, and thalidomide is also possible. Cortisone is used for mild swelling, while glucocorticoid is injected for more severe swelling. In principle, treatment of the symptoms that occur in Melkersson-Rosenthal syndrome is merely symptomatic. The main focus of efforts here is to maintain and improve the quality of life of affected patients despite their symptoms.
Outlook and prognosis
Melkersson-Rosenthal syndrome is now usually referred to as orofacial granulomatosis. In most cases, when Melkersson-Rosenthal syndrome is present, there is an episodic course with inflammatory components. This course of the disease can become chronic.It can extend over years, often even a whole lifetime. In this case, there can be no optimistic prognosis. It may be comforting that in most of the affected persons not the full-blown Melkersson-Rosenthal syndrome is found, but “only” minus variants with different symptomatology and individual expression. Especially in children, the full-blown Melkersson-Rosenthal syndrome is rarely found. Since physicians have not yet been able to find the cause of Melkersson-Rosenthal syndrome, the disease may be due to a genetic defect. This is supported by a familial accumulation. At least doctors nowadays know that spontaneous remissions can occur in Melkersson-Rosenthal syndrome. The disease has so far been regarded as a recurrent chronic disease. Accordingly, a cure would not be possible, but an absence of the inflammatory symptoms would be very possible. Since the course of the disease is individual for each person, it is difficult to predict. This also complicates the exact prognosis. Life expectancy is usually not limited in Melkersson-Rosenthal syndrome. However, the quality of life is, depending on the severity of the symptoms. It is hoped that proof of cause and gene therapy intervention will provide relief for sufferers in the future.
Prevention
Effective measures to prevent Melkersson-Rosenthal syndrome are not known at this time. This is because there is still insufficient research into the causes of the formation of the disease. Patient cooperation is central to alleviating symptoms.
Follow-up
In most cases, Melkersson-Rosenthal syndrome causes severe swelling in the patient, especially on the face. These swellings also significantly reduce the aesthetics of the affected person, so most patients also suffer from decreased self-esteem or depression and other psychological upsets in the process. In children, this may eventually lead to bullying or teasing. It is not uncommon for Melkersson-Rosenthal syndrome to result in significantly impaired intake of food and fluids, causing the affected person to suffer from various deficiency symptoms and to be underweight. Furthermore, the syndrome also leads to breathing difficulties, so that the patient’s ability to work under pressure is also significantly reduced by this disease. Most of the affected persons cannot actively participate in everyday life and also suffer from restrictions in their movement. Due to the swelling of the tongue, discomfort occurs during speech, so that children may develop at a slower pace. There is no self-healing in Melkersson-Rosenthal syndrome, and the general course cannot be predicted either. There may be a reduced life expectancy for the patient due to the disease.
What you can do yourself
Melkersson-Rosenthal syndrome can only be treated symptomatically. That is why the most effective self-help measure is to have the individual symptoms and complaints clarified and treated at an early stage. In addition to drug therapy, those affected can take further steps to alleviate the symptoms and improve their quality of life. Above all, exercise is recommended. Regular physical exercise improves well-being and slows down individual inflammatory processes. A balanced and healthy diet has a similar effect. Those affected should work with their doctor or a nutritionist to draw up a diet plan that is tailored to the individual symptoms and complaints. In principle, foods that trigger or promote inflammatory processes should be avoided. These include, for example, alcohol and convenience foods, but also certain types of vegetables and fruits. The physician treating the patient can best answer the question of which foods and drinks are allowed. Finally, it is important to avoid stress and to take care of the body. If this is accompanied by medical therapy, the progression of the disease can at least be slowed down. To avoid complications, the course of Melkersson-Rosenthal syndrome should be monitored by a physician.
