Melkersson-Rosenthal syndrome (MRS) is a rare genetic condition characterized by recurrent nonpitting orofacial edema, especially of one or both lips (granulomatous cheilitis), lower motoneuron facial paralysis and fissured dorsal tongue (lingua plicata). It is inherited in an autosomal dominant pattern and may have incomplete penetrance.
The defining components of Melkersson-Rosenthal syndrome (MRS) are lingua plicata, facial nerve palsy that may be unilateral or bilateral, partial or complete   and orofacial edema or granulomatous cheilitis  . The disease has a recurrent character, with intermittent relapses and asymptomatic periods. Episodes tend to become worse and more prolonged as the disease progresses. It is sometimes associated with other conditions, such as sarcoidosis, tuberculosis, leprosy, histoplasmosis, foreign body reactions, granulomatosis with polyangiitis, mixed connective tissue disease, Bell's palsy and Crohn's disease, in which case patients also exhibit symptoms of the underlying pathology. Some patients may have only one or two of the three components of the disease. Melkersson-Rosenthal syndrome can be a manifestation of Crohn's disease, sarcoidosis, and orofacial granulomatosis, so these entities should be ruled out first when a patient presents.
Granulomatous cheilitis manifests as diffuse or nodular, soft or firm swelling of the lips and/or surrounding tissues. The lips may appear cracked and discolored and eventually become painful. If the syndrome appears as part of Crohn's disease, affected mucosa takes the typical "cobblestone" appearance and may ulcerate . Cheilitis can be asymmetric or unilateral and can also become permanent. The edema may involve neighboring structures, such as the eyelids, palate, gingiva, larynx and pharynx. The affected lip becomes painful, firm, changes color over time and becomes fissured. The initial symptoms usually resolve while subsequent episodes may be more severe, last longer or fail to disappear. The patient may also exhibit fever, headache, and visual disturbances. Additional facultative traits include diminished salivary gland secretion, decreased gustatory sensation, mask-like facies, thick lower lip vermilion, furrowed tongue, abnormal temperature regulation and other autonomic nervous system abnormalities, lymphadenopathy, and nystagmus. The olfactory, auditory, glossopharyngeal and hypoglossal nerves may also be affected.
Entire Body System
Because of its rarity, the syndrome is usually ignored and misdiagnosed; however, the syndrome should not only be considered in the classic perioral presentation but also in the rare periocular form, which may be confused with orbital tumors and orbital pseudotumors [ncbi.nlm.nih.gov]
[…] in 1931. 4 The etiology of MRS is unknown, although both genetic and acquired factors have been implicated. 2,5 Isolated eyelid edema, particularly bilateral involvement, is also rare, and as such it is usually misdiagnosed as orbital tumor, orbital pseudotumor [annsaudimed.net]
- Recurrent Peripheral Facial Palsy
Case Report A 23-year-old, right-handed female was admitted to our outpatient neurology clinic with recurrent peripheral facial palsy that took place three times a year. [archivesofrheumatology.org]
- Soft Tissue Swelling
We described a case of Melkersson-Rosenthal syndrome in whom facial nerve branch palsies and an isolated masseter muscle atrophy were found in association with indolent multifocal facial soft tissue swellings. [ncbi.nlm.nih.gov]
- Food Intolerance
Food intolerance may play a pathogenetic role in some cases of Melkersson-Rosenthal syndrome, which is often of unknown origin. [ncbi.nlm.nih.gov]
FOOD INTOLERANCE Food or food additive intolerance Clin Allergy 1986;16:331-338 Cinnamaldehyde Carnosine Monosodium glutamate Cocoa Carbone Sunset yellow MULTIPLE SCLEROSIS Hereditary Melkersson-Rosenthal syndrome and multiple sclerosis. [thedoctorsdoctor.com]
Jaw & Teeth
(fissured tongue) Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Cheilitis granulomatosa of Miescher-Melkersson-Rosenthal (disorder) Melkersson's syndrome Melkersson's syndrome (disorder) MRS Cheilitis Granulomatosa MELKERSSON-ROSENTHAL SYNDROME [wikidata.org]
OBJECTIVE: To evaluate long-term results after reduction cheiloplasty in patients with macrocheilia caused by Melkersson-Rosenthal syndrome or cheilitis granulomatosa. [ncbi.nlm.nih.gov]
- Fissured Tongue
Melkersson-Rosenthal syndrome (MRS) is a rare disease characterized by a triad of relapsing or persistent orofacial edema, recurrent lower motor neuron facial nerve palsy and fissured tongue. [ncbi.nlm.nih.gov]
Wikidata Jump to navigation Jump to search rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip - cheilitis granulomatosis) and the development of folds and furrows in the tongue (fissured [wikidata.org]
- Lip Swelling
[…] and lip swelling are bothering patient,systemic corticosteroids should be administered. 2:11 .3 Finally Crohn's Disease and Mycobacterial Infections have to be ruled out in these patients. [youtube.com]
The 52-year-old woman presented with puffy eyelids, lower lip swelling and right facial nerve palsy. Fissures of the tongue were also noted. On investigation she was found to have a markedly low serum IgE level. [ncbi.nlm.nih.gov]
- Gingival Hypertrophy
We present the case of an 8 years old boy who was brought to us because of a non painful swelling of the upper lip, associated with gingival hypertrophy, that had persisted for more than two months. [ncbi.nlm.nih.gov]
Associated ophthalmic symptoms include lagophthalmos, blepharochalasis, swollen eyelids, burning sensation of the eyes, corneal opacities, retrobulbar neuritis, and exophthalmos. Also called Melkersson's syndrome. [medical-dictionary.thefreedictionary.com]
In thyroid orbitopathy, eyelid retraction and lagophthalmos often accompany bilateral eyelid edema. The skin may be erythematous, but is not thickened. [annsaudimed.net]
The remainder of her ocular examination results were normal; proptosis and lagophthalmos were absent. Basal tear secretion was normal (18 and 20 mm on basic Schirmer testing). Her tongue appeared normal. [jamanetwork.com]
- Conjunctival Injection
Slit lamp examination revealed severe conjunctival injection, cells and flare, posterior synechiae and keratic precipitates. Examination of the left eye revealed no evidence of inflammation. Examination of the other systems was normal. [ncbi.nlm.nih.gov]
Face, Head & Neck
- Facial Edema
Neurologists who observe a combination of facial edema and facial palsy in a patient should consider the diagnosis of MRS and proceed to a diagnostic skin biopsy and a trial of steroid treatment for their patient. [ncbi.nlm.nih.gov]
IN 1928, Melkersson 1 wrote of a 35-year-old female patient afflicted with facial paralysis and facial edema. [jamanetwork.com]
- Lip Edema
The complete triad including lip edema, fissured tongue and facial nerve paresis was manifested in three patients, oligosymptomatic form with lip edema and fissured tongue was diagnosed in two patients and one patient had only lip edema (monosymptomatic [go.galegroup.com]
This is a report of six cases treated at the Department of Allergology and Immunology of the Clinical Center of Serbia, who had presented with the referral diagnosis of recurring or persistent lip edema, and who were diagnosed with Melkersson-Rosenthal [ncbi.nlm.nih.gov]
Melkersson-Rosenthal syndrome is an unusual cause of facial swelling that can be confused with angioedema. To describe a young woman with facial swelling initially considered to be angioedema. [ncbi.nlm.nih.gov]
Cause [ edit ] Not to be confused with Rosenthal syndrome a.k.a. hemophilia C which is caused by clotting factor XI deficiency. Only genetic causation is established as it is associated with twins and family members. [en.wikipedia.org]
The diagnosis of Melkersson-Rosenthal syndrome is based on clinical findings. If needed, skin biopsies may be performed and they reveal different features, depending on the stage of the disease. In early stages, lymphedema and perivascular lymphocytic infiltration are found, while later in the evolution of the disease non-caseating granulomas around vessels have been described . However, it is important to rule out Crohn's disease and sarcoidosis, and that is achieved by performing a biopsy of the lip or surrounding tissues. If the result is unsatisfactory, a colonoscopy is indicated to exclude Crohn's disease , and gallium or positron emission tomography scans are recommended to rule out sarcoidosis and tuberculosis. A serum angiotensin-converting enzyme test can also be used to detect sarcoidosis. Granulomatous cheilitis may occur as a result of metal or food additives sensitivity, and patch tests with these antigens are useful to diagnose it .
- Khandpur S, Malhotra AK, Khanna N. Melkersson-Rosenthal syndrome with diffuse facial swelling and multiple cranial nerve palsies. J Dermatol. 2006 Jun; 33(6):411-414.
- Saito T, Hida C, Tsunoda I, Tsukamoto T, Yamamoto T. Melkersson-Rosenthal syndrome: distal facial nerve branch palsies, masseter myopathy and corticosteroid treatment. Fukushima J Med Sci. 1994 Jun; 40(1):39-44.
- Vibhute NA, Vibhute AH, Daule NR. Cheilitis granulomatosa: a case report with review of literature. Indian J Dermatol. 2013;58(3):242.
- Rowland LP. Merritt’ s neurology, Elsevier Urban &Partner, Wrocław 2013, tom II. p. 546–548.
- Campbell H, Escudier M, Patel P, et al. Distinguishing orofacial granulomatosis from Crohn's disease: two separate disease entities?. Inflamm Bowel Dis. 2011 Oct; 17(10):2109-2115.
- Elias MK, Mateen FJ, Weiler CR. The Melkersson–Rosenthal syndrome: a retrospective study of biopsied cases. Neurol. 2013;260(1):138–143.
- Banks T, Gada S. A comprehensive review of current treatments for granulomatous cheilitis. Br J Dermatol. 2012 May;166 (5):934-937.
- Fitzpatrick L, Healy CM, McCartan BE, et al. Patch testing for food-associated allergies in orofacial granulomatosis. J Oral Pathol Med. 2011 Jan; 40(1):10-13.