$Unique_ID{BRK03989} $Pretitle{} $Title{Melkersson-Rosenthal Syndrome} $Subject{Melkersson-Rosenthal Syndrome Melkersson Syndrome MRS Cheilitis Granulomatosa Bell's Palsy Amyloidosis, Type V } $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 599: Melkersson-Rosenthal Syndrome ** IMPORTANT ** It is possible that the main title of the article (Melkersson-Rosenthal Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Melkersson Syndrome MRS Cheilitis Granulomatosa Information on the following diseases can be found in the Related Disorders section of this report: Bell's Palsy Amyloidosis, Type V General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Melkersson-Rosenthal Syndrome is a rare neurological disorder. Recurrent swelling (edema) of the face, especially the lip, is accompanied by intermittent paralysis and a fissured tongue (lingua plicata). This disorder usually begins during childhood. Symptoms Melkersson-Rosenthal Syndrome is characterized by chronic swelling of the face and peripheral facial paralysis (affecting one or both sides of the face) that tends to relapse. In some cases, a fissured tongue (lingua plicata) may also occur. Facial swelling may only involve one lip, although both lips can be affected. Long-term swelling may cause facial or lip tissue to eventually be increased by excessive fibrous tissue. Lengthy intervals may separate occurrences, and swelling may not occur at the same time as the paralysis. In rare cases, the facial paralysis may become permanent. Causes The exact cause of Melkersson-Rosenthal Syndrome is not known. It is believed to be inherited as an autosomal dominant trait with incomplete penetrance. (In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene.) Other researchers believe that Melkersson-Rosenthal Syndrome is an autoimmune disease. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms suddenly begin to attack healthy tissue. Some cases may be linked to abnormal immune reactions by blood cells which produce antibodies to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal cells, or thyroid. Affected Population Melkersson-Rosenthal Syndrome usually begins during childhood and tends to affect females more often than males. This disorder was originally identified in Europe. Related Disorders Symptoms of the following disorders can be similar to those of Melkersson- Rosenthal Syndrome. Comparisons may be useful for a differential diagnosis: Bell's Palsy is a unilateral facial paralysis of sudden onset resulting from ischemia or compression of the facial nerve (cranial nerve VII) in its canal in the temporal bone. It is non-progressive and benign, and may be partial or complete. The affected muscles usually regain their function after one or two months, although in cases of extensive nerve damage, all or part of the paralysis may be permanent. (For more information on this disorder, choose "Bell" as your search term in the Rare Disease Database). Amyloidosis, Type V, also known as cerebral arterial or Iceland type Amyloidosis, results from the extracellular accumulation of amyloid, a glycoprotein, in quantities sufficient to cause dysfunction. Symptoms such as facial paralysis or swelling similar to Melkersson-Rosenthal Syndrome may occur in some cases. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of facial paralysis in Melkersson-Rosenthal Syndrome may involve surgery to decompress the facial nerve. However, caution should be used in recommending this procedure since it may not be effective in all patients. Abnormally swollen lips may be reduced by surgical intervention. Local injections of triamcinolone acetonide solution may provide improvement in some patients. Other treatment is symptomatic and supportive. Therapies: Investigational A pilot study involving the anti-Leprosy drug clofazimine as a treatment for Melkersson-Rosenthal Syndrome is underway. The mode of action clofazimine takes in this disorder is not well understood. Therefore, more intensive research is necessary before complete therapeutic value can be evaluated. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Melkersson-Rosenthal Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 486. MELKERSSON-ROSENTHAL SYNDROME: M.W. Minor, et al.; J Allergy Clin Immunol (July 1987, issue 80 (1)). Pp. 64-67. INTRALESIONAL T LYMPHOCYTE PHENOTYPES AND HLA-DR EXPRESSION IN MELKERSSON-ROSENTHAL SYNDROME: L. Ronnblom, et al.; Int J Oral Maxillofac Surg (October 1986, issue 15 (5)). Pp. 614-619. TOTAL FACIAL NERVE DECOMPRESSION IN RECURRENT FACIAL PARALYSIS AND THE MELKERSSON-ROSENTHAL SYNDROME: A PRELIMINARY REPORT: M.D. Graham, et al.; Am J Otol (January 1986, issue 7 (1)). Pp. 34-37. THE MELKERSSON-ROSENTHAL SYNDROME: W. B. Wadlington, et al.; Pediatrics (April 1984, issue 73 (4)). Pp. 502-560.