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Melkersson-Rosenthal Syndrome

Melkerson Rosenthal Syndrome

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.


Presentation

The defining components of Melkersson-Rosenthal syndrome (MRS) are lingua plicata, facial nerve palsy that may be unilateral or bilateral, partial or complete [1] [2] and orofacial edema or granulomatous cheilitis [3] [4]. 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 [5]. 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.

The central nervous system may be involved in some cases, causing multiple sclerosis-like symptoms or miscellaneous psychiatric symptoms and autonomic disturbances.

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]
Constipation
  • In six patients (6 of 14) with minor gastrointestinal symptoms as flatulence, occasional constipation, diarrhoea, or admixture of mucus with the stool, we could not detect any signs of inflammatory bowel disease by capsule endoscopy.[ncbi.nlm.nih.gov]
Cheilitis
  • (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]
  • Granulomatous cheilitis may occur as a result of metal or food additives sensitivity, and patch tests with these antigens are useful to diagnose it.[symptoma.com]
  • One year follow up objectified no reactivation of cheilitis.[ncbi.nlm.nih.gov]
  • The complementary examinations were normal and the biopsy was compatible with granulomatous cheilitis.[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]
  • Melkersson-Rosenthal syndrome (MRS) classically shows a triad of orofacial swelling, fissured tongue and facial palsy, more commonly the oligosymptomatic form.[ncbi.nlm.nih.gov]
  • Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous condition characterized by persistent or recurrent orofacial oedema, relapsing facial paralysis and fissured tongue.[ncbi.nlm.nih.gov]
  • Melkersson-Rosenthal syndrome (MRS) consists of persistent or recurrent orofacial edema, relapsing facial palsy and fissured tongue. The complete triad of symptoms is uncommon, varying from 8 to 25%.[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
  • We report a 24-year-old woman with recurrent facial and lip swelling, lingua plicata, and peripheral facial-nerve palsy who benefited from a short course of high-dose i.v. methylprednisolone.[ncbi.nlm.nih.gov]
  • It is rarely described in otorhinolaryngology-related journals, although facial palsy, lip-swelling, and lingua plicata, are its most common presenting features. This classical triad however is not always present in MRS.[ncbi.nlm.nih.gov]
  • Cheilitis granulomatosa (CG), which presents clinically as persistent lip swelling, is characterized histologically by noncaseating granulomatous inflammation of unknown origin.[ncbi.nlm.nih.gov]
  • […] 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]
Skin Atrophy
  • Intralesional therapy with triamcinolone acetonide 0.1% into each side of the affected lip is preferred in more severe cases, but the need for multiple injections for many years carries the risk of skin atrophy and hypopigmentation.[dermatologyadvisor.com]
Lagophthalmos
  • 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]
Psychiatric Symptoms
  • The central nervous system may be involved in some cases, causing multiple sclerosis-like symptoms or miscellaneous psychiatric symptoms and autonomic disturbances. The diagnosis of Melkersson-Rosenthal syndrome is based on clinical findings.[symptoma.com]
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]
  • Associated facial palsy, facial edema, and scrotal tongue were found in three, four and one patients, respectively. Lip biopsies from 5 patients failed to show any granuloma.[ncbi.nlm.nih.gov]
  • Melkersson-Rosenthal syndrome (MRS) is characterized by the triad of recurrent facial palsy, lingua plicata, and facial edema. Herein, we report a case of MRS associated with Ehlers-Danlos syndrome due to rare presentation.[ncbi.nlm.nih.gov]
  • She presented with lower labial swelling and left facial edema. Histological examination of the involved oral mucosa showed a noncaseating epithelioid granuloma. Results from the laboratory and imaging examinations were normal or negative.[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
  • 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]
  • Ipsilateral lip edema was present in 1 case. Computed tomography demonstrated periorbital heterogeneous thickening that corresponded to the microscopic finding of scattered granulomas.[ncbi.nlm.nih.gov]
  • 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]
  • Besides the eyelids, the disease can cause lip edema, facial palsy, and/or fissured tongue.[ncbi.nlm.nih.gov]
Mask-like Facies
  • 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[symptoma.com]
Confusion
  • 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]
  • 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[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]

Workup

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 [6]. 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 [7], 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 [8].

Treatment

  • Clofazimine seems to be an effective treatment, although long-term application is necessary with frequent aggravation in the beginning. Infliximab, an effective drug in Crohn's disease, could be a promising treatment option for severe cases.[ncbi.nlm.nih.gov]
  • With careful planning, proper sequencing of treatment, and proficiency in the various surgical techniques, optimal results can be achieved.[ncbi.nlm.nih.gov]
  • Owing to medication adverse effects, infliximab treatment was discontinued. Treatment was then continued with adalimumab, with good effect and without adverse events.[ncbi.nlm.nih.gov]
  • We conclude MRS is not uncommon, clofazimine may be effective treatment in moderate lesions and spontaneous remissions can occur.[ncbi.nlm.nih.gov]

Prognosis

  • The difference was statistically significant (P CONCLUSION: Compared to recurrent Bell's palsy, recurrent facial palsy in MRS had much worse prognosis. The Author(s) 2014.[ncbi.nlm.nih.gov]
  • Prognosis Melkersson-Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder.[ninds.nih.gov]
  • What is the prognosis? Melkersson-Rosenthal syndrome may recur intermittently after it first appears. The person will therefore experience intermittent facial weakness which can resolve as the nerve recovers.[facialpalsy.org.uk]
  • , Source MeSH Administration, Oral Adolescent Adrenal Cortex Hormones Adult Cheilitis Cohort Studies Combined Modality Therapy Facial Paralysis Female Humans Injections, Intralesional Male Melkersson-Rosenthal Syndrome Middle Aged Postoperative Care Prognosis[unboundmedicine.com]

Etiology

  • Considering that the etiologies of MRS and childhood-onset OCD have been attributed to infectious agents and autoimmune events, we conclude that both causes may play an important role in the etiology of these conditions.[ncbi.nlm.nih.gov]
  • Melkersson-Rosenthal syndrome is an uncommon disorder of uncertain etiology. Different therapeutic regimens have been attempted but with limited success.[ncbi.nlm.nih.gov]
  • We present three cases of the Melkersson-Rosenthal syndrome with the classic triad of symptoms and discuss the etiology and the clinical and electromyography findings of this syndrome.[ncbi.nlm.nih.gov]
  • In addition, the MRS literature is reviewed with respect to incidence, etiology, clinical features, pathology, differential diagnosis and treatment.[ncbi.nlm.nih.gov]
  • Melkersson-Rosenthal syndrome (MRS) is a rare disorder of unknown etiology characterized by a triad of symptoms: recurrent orofacial swelling, relapsing facial palsy. and a fissured tongue.[ncbi.nlm.nih.gov]

Epidemiology

  • Epidemiology CG is an uncommon disease of undefined incidence and prevalence. One study estimated there incidence at 0.08% of the general population. It may have its onset at all ages.[ncbi.nlm.nih.gov]
  • Epidemiological information on this condition is scarce, most of the data reported relating only to granulomatous cheilitis.[thedoctorsdoctor.com]
  • Epidemiology While the actual frequency is unknown, one study estimated its incidence at 0.08% of the general population. [9] Onset of granulomatous cheilitis usually is in young adult life.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • We have demonstrated that lymphatic pathology plays an important role in pathophysiology of chronic facial swelling in patients with Melkersson-Rosenthal syndrome.[ncbi.nlm.nih.gov]
  • This chapter provides a review of the clinical features, hypothesized pathophysiology, and current management of this syndrome.[medlink.com]
  • Pathophysiology The pathogenesis of CG is unknown. Several factors could partially explain it: Genetic predisposition: The genetic origin has been evoked in front of the presence of family cases that nevertheless remain rare.[ncbi.nlm.nih.gov]
  • Pathophysiology The association among Melkersson-Rosenthal syndrome, Crohn’s disease, and sarcoidosis is tenuous, as there is no proven common pathophysiologic mechanism or etiology.[dermatologyadvisor.com]
  • […] lymphatic drainage from the swollen area in patients with MRS and the corresponding follow-up lymphoscintigraphy have demonstrated a restoration of lymphatic flow after clinical improvement suggesting that lymphatic pathology plays an important role in pathophysiology[ncbi.nlm.nih.gov]

Prevention

  • OBJECTIVE: To study the role of total facial nerve decompression in preventing further recurrence of facial palsy in Melkersson Rosenthal syndrome (MRS).[ncbi.nlm.nih.gov]
  • OBJECTIVE: To present our surgical experience in preventing further episodes of facial palsy and improving facial nerve recovery of patients with recurrent facial palsy in MRS.[ncbi.nlm.nih.gov]
  • There is anecdotal evidence in the literature to suggest that surgical decompression of the facial nerve in its entire intratemporal course may prevent further attacks of facial paralysis and its sequelae.[ncbi.nlm.nih.gov]
  • Prophylactic decompression of the facial nerve for patients with appropriate electrophysiological indication may prevent further facial palsy attacks.[ncbi.nlm.nih.gov]
  • It also opens the possibility of providing psychiatric and psychological therapeutic interventions to help prevent relapses and exacerbations of that syndrome.[ncbi.nlm.nih.gov]

References

Article

  1. 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.
  2. 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.
  3. Vibhute NA, Vibhute AH, Daule NR. Cheilitis granulomatosa: a case report with review of literature. Indian J Dermatol. 2013;58(3):242.
  4. Rowland LP. Merritt’ s neurology, Elsevier Urban &Partner, Wrocław 2013, tom II. p. 546–548.
  5. 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.
  6. Elias MK, Mateen FJ, Weiler CR. The Melkersson–Rosenthal syndrome: a retrospective study of biopsied cases. Neurol. 2013;260(1):138–143.
  7. Banks T, Gada S. A comprehensive review of current treatments for granulomatous cheilitis. Br J Dermatol. 2012 May;166 (5):934-937.
  8. 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.

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Last updated: 2019-06-28 09:47