Última actualización:
November 19, 2020
Años publicados: 1989, 1996, 1998, 2006, 2007, 2020
NORD gratefully acknowledges Nicole Choy, MSGC Candidate and NORD Editorial Intern from the Keck Graduate Institute and Emily Quinn, MS, CGC, Associate Program Director, Assistant Professor, Master of Science in Human Genetics and Genetic Counseling (MSGC) program at Keck Graduate Institute School of Pharmacy and Health Sciences, for assistance in the preparation of this report.
Summary
Melkersson-Rosenthal syndrome (MRS) is a rare neurological disorder characterized by recurrent, long-lasting swelling of the face (edema), particularly of one or both lips (granulomatous cheilitis), facial muscle weakness (palsy) and deep grooves on the tongue (fissured tongue). Most affected individuals will have only one or two symptoms, while some may present with all three. MRS can affect individuals of all ages. The onset of symptoms is more frequent in young adulthood, but can occur well into adulthood. It is estimated that MRS occurs in 0.08% of the general population. There is no cure for MRS, but symptoms can be treated with anti-inflammatory agents, antihistamines, corticosteroids and in some cases surgery.
Melkersson-Rosenthal syndrome is defined by recurrent swelling (edema) of various facial features such as the upper lip, lower lip, one or both cheeks, eyelids, or rarely, one side of the scalp. It is also characterized by recurrent muscle weakness or paralysis (palsy) in the face and deep grooves or cracks (fissures) in the tongue. Affected individuals usually present with only one or two symptoms. It is estimated that about 8-18% of all patients present with all three symptoms.
The first episode of edema may resolve in a few hours or days, but swelling may be more severe and last longer in subsequent episodes and in some people can become permanent. The enlarged lips may appear cracked and discolored and can be painful. The edema resembles angioedema; rapid swelling caused by an accumulation of fluid, but tends to be more persistent and resistant to antihistamine treatment. Edema associated with MRS may also lead to the development of scar tissue (fibrosis) of the affected tissues. Edema is the most common feature, is often considered the characteristic symptom of MRS and may be the first or only symptom present.
A fissured tongue is defined as grooves on the tongue measuring about 2mm (0.07 in) deep and 15mm (0.6 in) long. A fissured tongue is seen in 30-80% of those affected by MRS and may be present at birth. It may lead to secondary infections, enlargement (hypertrophy) of the tongue, loss of taste buds, or an itching/burning sensation (dysesthesia). Salivary gland secretion may also be reduced. Although associated with MRS, a fissured tongue is also present in about 0.5-5% of the general population and may be familial or hereditary.
Facial muscle weakness and paralysis (facial palsy) occurs in 30-90% of those affected with MRS. It usually occurs after the first few episodes of edema but it can sometimes be the first and only symptom. In 13-50% of affected individuals, facial palsy is associated with facial edema. The facial weakness or paralysis can be on one side (unilateral) or both (bilateral) and resolves initially, but can become permanent. As the disease progresses, the duration of facial palsy may increase. Some individuals may also experience paralysis of other muscles in the head and neck associated with different cranial nerves. Children with recurrent facial palsy should be evaluated for underlying MRS. Recurrent facial palsy is observed in about 10% of all people with MRS.
Individuals affected by MRS have also reported additional symptoms that include migraines, headaches, tinnitus or sudden deafness, dizziness, dry mouth, facial pain, difficulty swallowing, dry eyes, blurred vision, diarrhea, and excessive tearing. Non-neurological symptoms of MRS may also include inflammation of the intestines (diverticulitis) and inflammation of the eyes (uveitis).
The cause of MRS is still not known. Some cases of MRS have been attributed with various infections by bacterial or viral agents; it is possible that infection with herpesviruses may be a possible cause for MRS. Dietary and other allergens may also be involved in the development of MRS. Some studies have demonstrated the role of hormonal changes triggering the onset of inflammatory episodes. It is also suspected that MRS may be a secondary symptom of another condition such as Crohn’s disease or sarcoidosis. However, no strong associations exist to explain what causes MRS.
There is evidence to suggest that MRS may be inherited because familial inheritance was observed in several patients. However, the presentation of symptoms is highly variable, which makes diagnosis and observing inheritance challenging. While genetics is suspected to be involved, changes (mutations) in specific genes have not been shown to cause the condition. Some reports have implicated several genes to be associated with MRS, but the majority of literature demonstrates that this condition is both clinically and genetically variable.
MRS affects individuals of all ages. Typically, onset of symptoms begins in young adulthood but can occur well into adulthood. While it is not common, a few patients have been diagnosed during childhood. Most literature suggests that MRS tends to affect more females than males. Due to the rarity of MRS, accurate data regarding the incidence of this condition is difficult to obtain. It is likely an under-diagnosed condition as many people with MRS are misdiagnosed because the clinical symptoms overlap with many other common conditions.
MRS is diagnosed clinically, based on physical findings and medical history. The presence of persistent or recurrent facial swelling and either facial palsy or tongue findings may be sufficient for a clinical diagnosis. A biopsy of the lips may be necessary to confirm the diagnosis and rule out possible infectious causes, recurrent angioedema, Crohn’s disease, sarcoidosis or cancers. The presence of only one of the clinical features is enough for diagnosis when a biopsy of affected tissues is consistent with MRS. Because of the overlapping features of MRS with other common conditions, time to diagnosis may take years.
Clinical Testing and Work-Up
The symptoms of MRShave significant overlap with common conditions and initial evaluation may involve specialized laboratory studies and procedures to rule out Crohn’s disease and sarcoidosis. When there is a suspected diagnosis of MRS, it is recommended to follow up with dermatology, immunology, gastroenterology, and ophthalmology to rule out other conditions with similar clinical presentations.
Treatment
There is no standard method of treatment for MRS. Most signs and symptoms of MRS resolve without treatment but episodes may occur more often and last longer if the condition is not treated. Treatment for MRS may include corticosteroid injections, nonsteroidal anti-inflammatory agents, antihistamines, and antibiotics. In some patients, MRS may be treated with short courses of immunosuppressants. Surgery and/or radiation are sometimes recommended to reduce abnormally swollen lips. If patients experience persistent and recurrent facial paralysis, surgery may be required to decompress affected facial nerves.
Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
TEXTBOOKS
Dutt SN and Irving RM. Melkersson-Rosenthal Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:557.
JOURNAL ARTICLES
Dhawan SR, Saini AG, Singhi PD. Management strategies of Melkersson-Rosenthal syndrome: A review. Int J Gen Med. 2020;13:61-65.
Cancian M, Giovannini S, Angelini A, et al. Melkersson–Rosenthal syndrome: a case report of a rare disease with overlapping features. Allergy, Asthma & Clinical Immunology. 2019;15(1):1.
Wehl G, Rauchenzauner M. A systematic review of the literature of the three related disease entities cheilitis granulomatosa, orofacial granulomatosis and Melkersson – Rosenthal syndrome. CPR. 2018;14(3):196-203
Feng S, Yin J, Li J, Song Z, Zhao G. Melkersson-Rosenthal syndrome: a retrospective study of 44 patients. Acta Oto-Laryngologica. 2014;134(9):977-981.
Rivera-Serrano CM, Man L-X, Klein S, Schaitkin BM. Melkersson–Rosenthal syndrome: A facial nerve center perspective. Journal of Plastic, Reconstructive & Aesthetic Surgery. 2014;67(8):1050-1054.
Elias MK, Mateen FJ, Weiler CR. The Melkersson–Rosenthal syndrome: a retrospective study of biopsied cases. J Neurol. 2013;260(1):138-143.
Liu R, Yu S. Melkersson–Rosenthal syndrome: a review of seven patients. Journal of Clinical Neuroscience. 2013;20(7):993-995.
Ozgursoy OB, Karatayli Ozgursoy S, Tulunay O, Kemal O, Akyol A, Dursun G. Melkersson-Rosenthal syndrome revisited as a misdiagnosed disease. American Journal of Otolaryngology. 2009;30(1):33-37.
Kanerva M, Moilanen K, Virolainen S, Vaheri A, Pitkäranta A. Melkersson-Rosenthal syndrome. Otolaryngol Head Neck Surg. 2008;138(2):246-251
Kovich OI and Cohen DE. Granulomatous cheilitis. Dermatology Online Journal 2004;10(3):10.
Shapiro M, Peters S, Spinelli HM: Melkersson-Rosenthal syndrome in the periocular area: a review of the literature and case report. Ann Plast Surg 2003; 50(6): 644-8.
Wong GA, Shear NH: Melkersson-Rosenthal syndrome associated with allergic contact dermatitis from octyl and dodecyl gallates. Contact Dermatitis 2003; 49(5): 266-7.
Dutt SN, Mizra S, Irving RM, et al. Total decompression of facial nerve for Melkerrson-Rosenthal syndrome. J Laryngol Otol 2000;114:870-873.
McKenna KE, Walsh MY, Burrows D. The Melkersson-Rosenthal syndrome and food additive hypersensitivity. Br J Dermatol 1994;131(6):921-2.
Zimmer WM, Rogers RS 3rd, Reeve CM, Sheridan PJ: Orofacial manifestations of Melkersson-Rosenthal syndrome. A study of 42 patients and review of 220 cases from the literature. Oral Surg Oral Med Oral Pathol 1992; 74(5): 610-9.
INTERNET
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No. %155990; Last Update: 01/14/09. https://omim.org/entry/155900 Accessed November 16, 2020.
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Aprende más https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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