Melkersson-Rosenthal syndrome: A case report.

Key Clinical Message: Melkersson-Rosenthal syndrome (MRS) remains an enigmatic pathology due to an unknown etiology. Our report, of a 69-year-old man with MRS misdiagnosed for about 40 years, underlines the diagnostic difficulty of this condition. A holistic view of the patient, with a correct medical history investigation, are often decisive in the diagnosis of MRS. Abstract: Melkersson-Rosenthal syndrome (MRS) is a rare disorder with a still unknown etiology. It is defined by three main symptoms, which are orofacial granulomatosis (OFG), facial palsy, and fissured tongue. It generally presents in young people, during the second or third decade, and its incidence in the entire population is about 1%. We focus our attention on a 69-year-old man who came to us with an important swelling of the upper lip. His anamnesis revealed that he suffered from a facial palsy four times in his life and at the physical examination we attested the presence of scrotal tongue. We suspected a misdiagnosed MRS and we searched the web in order to give him a diagnosis and a therapy. We found that OFG is the most common symptom of MRS and that it can show as a non complete form, where the three main symptoms cannot occur simultaneously. We also prescribed a therapy based on the use of topic steroids and antiviral, according to literature. After the positive response to the therapy and according to data found in the most recent literature, we can assume that our patient suffers from a misdiagnosed MRS for about 40 years.

Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

Peripheral facial palsy rarely occurs as part of Melkersson-Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in SCN1A carried only by the affected sister. Variants in the SCN1A gene can cause a spectrum of early-onset epileptic encephalopathies, in addition to FHM; therefore, our finding reasonably explains the proband phenotype, in which the main symptom was recurrent facial palsy. This report also adds knowledge to the clinical spectrum of SCN1A alterations and suggests a potential overlap between MRS and FHM.

Granulomatous gingival manifestation in Melkersson Rosenthal syndrome: a case report.

Melkersson-Rosenthal syndrome is a rare condition of unknown etiology. It is characterized by a classical triad of symptoms: relapsing facial and lip swelling, facial palsy and a fissured tongue. We report the case of a 29-year-old female patient who presented with the above-mentioned symptoms of Melkersson-Rosenthal syndrome. However, clinical examination revealed an exceptional manifestation, which is the gingival hyperplasia. The symptoms were partially managed with systemic steroids and surgical resection of gingival hyperplasia. The most significant finding to emerge from our case is that gingival enlargement can be identified as a rare clinical feature of the MRS disease, which is confirmed difficult to be managed.

Melkersson-Rosenthal Syndrome: A Case Report With a Bipolar Perspective.

Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous condition that presents with orofacial swelling, facial paralysis, and a fissured tongue. These classic triad of symptoms, however, very rarely present simultaneously. The symptoms are often seen alone or in pairs and appear at any stage in life. Although the etiology of this condition is unknown, various contributing factors have been suggested including infections, immune deficiencies, stress, and genetic predispositions. We present a case of a 23-year-old female patient who has a longstanding history of MRS, anxiety, and depression, and who attempted to overdose on prescription medications due to suicidal ideations.

Treatment of Orofacial Granulomatosis-9-Month Follow-up: A Case Report.

Orofacial granulomatosis is a condition that manifests clinically as painless labial enlargement, perioral and mucosal edema, oral ulcers, and gingivitis. It is characterized by non-necrotizing granulomatous inflammation of the oral and maxillofacial region. When the swelling only affects the lips, the pathology is called Miescher's granulomatous cheilitis; however, when it also causes facial paresis and lingua plicata, it is known as Melkersson-Rosenthal syndrome. We report a case that was successfully treated with a combination of a local (intralesional) steroid, a systemic antibiotic, and a systemic steroid. After 6 months of therapy, we observed improvement in gingival hyperplasia and buccal mucosa and lip edema.

A case of complete Melkersson-Rosenthal syndrome: Possibly associated with Mycolicibacterium fortuitum from odontogenic origin.

Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease of unknown pathogenesis. With this communication, we describe a case of a 26-year-old woman with complete MRS in whom Mycolicibacterium fortuitum was detected in the swelling lip biopsy by next- generation sequencing. The patient's symptoms were slightly improved after intralesional corticosteroid injection combined with broad-spectrum antibiotics, while they were significantly improved after further treatment of dental caries and removal of the residual root. This case provides insight into the possible microbial infection pathogenesis of MRS, and M. fortuitum was speculated to be related to granulomatous and neuronal disorders, most probably from odontogenic origin.

Melkersson-Rosenthal syndrome: a classical case report / Síndrome de Melkersson-Rosenthal: relato de caso clássico

ABSTRACT The Melkersson-Rosenthal syndrome constitutes a rare manifestation characterized by a triad of signs and symptoms: recurrent orofacial edema, fissured tongue, and recurrent facial paralysis. The difficulty in diagnosing Melkersson-Rosenthal syndrome is that orofacial edema is common to various diseases besides the lack of awareness of the syndrome by health professionals and the frequent metachronous manifestation of its symptomatology. The aim of this report is to present a classical case of Melkersson-Rosenthal syndrome and its clinical and therapeutic approach. A patient who sought for assistance at the Stomatology Clinic presented a synchronous manifestation of the triad: a left lip and cheek nonpitting edema accompanied by facial paralysis on the same side and fissured tongue. Melkersson-Rosenthal syndrome was diagnosed due to the presence of the triad of signs and symptoms after initially ruling out Crohn's disease, Sarcoidosis, and tuberculosis due to a lack of intestinal or respiratory complaints and absence of other clinical evidence. The treatment administered was steroids, the most common treatment with a satisfied prognosis we found in the literature for Melkersson-Rosenthal syndrome patients. We recommend its implementation intralesional injections of betamethasone dipropionate as after four infiltrations the edema subsided by 80% with no further relapses within one-year follow-up.

RESUMO A síndrome de Melkersson-Rosenthal constitui uma manifestação rara caracterizada por uma tríade de sinais e sintomas: edema orofacial recorrente, língua fissurada e paralisia facial recorrente. A dificuldade no diagnóstico da síndrome de Melkersson-Rosenthal é que o edema orofacial é comum a diversas doenças, além do desconhecimento da síndrome pelos profissionais de saúde e da frequente manifestação metacrônica de sua sintomatologia. O objetivo deste relato é apresentar um caso clássico de síndrome de Melkersson-Rosenthal e sua abordagem clínica e terapêutica. Paciente procurou atendimento no Ambulatório de Estomatologia apresentando manifestação sincrônica da tríade: edema não depressível em lábio e bochecha esquerdos acompanhado de paralisia facial do mesmo lado e língua fissurada. A síndrome de Melkersson-Rosenthal foi diagnosticada devido à presença da tríade de sinais e sintomas após a exclusão inicial de doença de Crohn, sarcoidose e tuberculose por ausência de queixas intestinais ou respiratórias e ausência de outras evidências clínicas. O tratamento administrado foi o esteroide, sendo o tratamento mais comum com prognóstico satisfatório que encontramos na literatura para pacientes com SRM. Recomendamos a aplicação de injeções intralesionais de dipropionato de betametasona, pois após quatro infiltrações o edema cedeu em 80% sem novas recidivas em um ano de seguimento.

An Atypical Presentation of Sarcoid Myositis.

Sarcoidosis is a well-characterized inflammatory disease that affects multiple organ systems and can have long-term devastating outcomes if not identified and treated appropriately. The disease is most prevalent among young to middle-aged African American women. It most commonly presents with pulmonary involvement, though there are reported cases of sarcoidosis without pulmonary involvement. Pulmonary presentations can be biopsied, diagnosed, and treated with primary immunomodulation with great treatment success. Here, we present an unusual presentation of sarcoidosis as granulomatosis mucositis in the salivary gland and concurrent rare complication of sarcoid myositis in the rectus femoris in a patient with no evidence of pulmonary involvement throughout the duration of their clinical course. Further, we discuss differential diagnoses related to this patient's presentation as well as the efficacy of treatment modalities available in the management of this disease.

Melkersson-Rosenthal Syndrome in a 38-Year-Old Female Patient: A Rare Case With Complete Triad.

Melkersson-Rosenthal syndrome (MRS) is an uncommon neuro-mucocutaneous disease, clinically characterized by a triad of recurrent facial palsy, orofacial swelling, and fissured tongue. This report presents the case of a 38-year-old female diagnosed with MRS based on its three clinical features. A corticosteroid (1 mg/kg/day of oral prednisolone) was prescribed for a week, and then tapered off over two weeks by gradually lowering the dose. Regular annual long-term follow-ups were requested to monitor the disease activity.

Síndrome de Melkersson-Rosenthal como diagnóstico diferencial de edema labial / Melkersson-Rosenthal syndrome as a differential diagnosis of lip swelling

A síndrome de Melkersson-Rosenthal é uma condição rara caracterizada pela tríade clássica: edema orofacial, língua fissurada e paralisia facial. Pode haver apenas uma ou duas manifestações por tempo prolongado, dificultando o diagnóstico. É denominada queilite de Miescher quando a única manifestação é o edema orofacial, com histologia característica. O presente relato tem como objetivo alertar para o diagnóstico da síndrome de Melkersson- Rosenthal em casos de angioedema labial crônico, com revisão da literatura. Mulher de 40 anos apresentando edema labial desde os 23 anos de idade, sem regressão há cinco anos, sem prurido, sem desencadeantes. Observou-se língua fissurada ao exame físico. Sem alterações aos exames complementares. O edema orofacial persistente, a língua fissurada, a biópsia de lábio inferior evidenciando queilite crônica (hiperqueratose e infiltração linfocítica perivascular) e a exclusão de diagnósticos diferenciais através de exames complementares permitiram o diagnóstico da síndrome de Melkersson-Rosenthal. A paciente foi então encaminhada à Cirurgia Plástica, que orientou retirada cirúrgica do excesso labial. O diagnóstico da síndrome é essencialmente clínico. O tratamento deve ser individualizado, visando o alívio das manifestações clínicas apresentadas em cada caso. É importante o acompanhamento multiprofissional tentando minimizar danos psicológicos e melhorar o prognóstico. A síndrome de Melkersson- Rosenthal pode apresentar-se como angioedema labial crônico e língua fissurada, sem paralisia facial, podendo retardar o diagnóstico, como no presente caso. É necessária a lembrança da síndrome para o diagnóstico e conduta mais precoce, para melhor qualidade de vida destes pacientes.

Melkersson-Rosenthal syndrome is a rare condition characterized by the classic triad: orofacial edema, fissured tongue, and facial paralysis. Only 1 or 2 manifestations of the triad may be present for a prolonged time, making diagnosis difficult. It is called Miescher's cheilitis when the only manifestation is orofacial edema, with characteristic histology. The present report aims to alert to the diagnosis of Melkersson-Rosenthal syndrome in cases of chronic lip angioedema, with a review of the literature. A 40- year-old woman presented with lip swelling since the age of 23, with no regression of the swelling for 5 years, without pruritus or triggers. A fissured tongue was observed on physical examination. Complementary tests showed no abnormalities. Persistent orofacial edema, fissured tongue, lower lip biopsy showing chronic cheilitis (hyperkeratosis and perivascular lymphocytic infiltration) and the exclusion of differential diagnoses through complementary tests led to the diagnosis of Melkersson-Rosenthal syndrome. The patient was then referred to the Plastic Surgery Service, which recommended surgical removal of excess lip tissue. The diagnosis of the syndrome is essentially clinical. Treatment should be individualized, aiming to alleviate the clinical manifestations in each case. Multidisciplinary follow-up is important to minimize psychological damage and improve prognosis. Melkersson- Rosenthal syndrome can present as chronic lip angioedema and fissured tongue, without facial paralysis, which may delay the diagnosis, as in the present case. It is necessary to consider the syndrome to allow earlier diagnosis and management and to provide a better quality of life for these patients.

Melkersson-Rosenthal syndrome: a rare variant of the monosymptomatic form.

Melkersson-Rosenthal syndrome (MRS) is a rare condition without any known etiology. It is characterized by the triad facial paralysis, facial swelling, and the development of folds and furrows at the tongue (fissured tongue). This study aims to report a case of a 59-year-old patient complaining about asymmetric eyelid swelling that had started two years before, associated with pain and redness on her right eye, without repercussions on her visual acuity. The patient underwent a skin biopsy of the right eye's lower eyelid, which was compatible with the monosymptomatic form of MRS. Consequently, five injections of triamcinolone were performed for the period of one year, with gradual and satisfactory improvement. One year after the end of the treatment, the patient returned with recurrence of the swelling, and therapy with triamcinolone associated with oral steroids was started. However, due to the lack of improvement, Tacrolimus ointment 0.03% was initiated. The patient evolved with an important and significant reduction of the eyelid edema, still being followed at the Hospital Federal dos Servidores do Estado do Rio de Janeiro.

Erythematous plaques of the vulvo-perineal region.

Skin conditions are a common reason for consulting primary health care. The public frequently expects their primary health care providers to be able to recognise and treat common skin conditions with confidence. Primary care providers must be able to identify 'red flag' skin conditions that require dermatology referral. However, diagnosis is often delayed due to the non-specific clinical presentation, low incidence, slow evolution and long-term history of such lesions. We report the case of a patient with extramammary Paget's disease that presented to her primary care provider and subsequently underwent a wide local excision.

Melkersson-Rosenthal syndrome in the context of sarcoidosis: a case report.

BACKGROUND: Melkersson-Rosenthal syndrome is a rare disease characterized by the triad of recurrent orofacial swelling with facial paralysis and fissured dorsal tongue. Histologically, noncaseating granulomatous inflammation occurs that confirms the diagnosis. Overlaps between granulomatous diseases such as sarcoidosis and Crohn's disease are described. Systemic corticosteroid therapy is the treatment of choice for acute attacks. CASE PRESENTATION: We here present a case of a 59-year-old White woman suffering from Melkersson-Rosenthal syndrome with a past history of sarcoidosis on therapy with leflunomide in combination with low-dose tacrolimus successfully treated with the anti-leprosy drug clofazimine after failure of systemic steroid therapy. CONCLUSIONS: We propose clofazimine as an alternative treatment in steroid-refractory cases.

Surgical management of Miescher's cheilitis: a case report.

Miescher's cheilitis, also known as cheilitis granulomatosa, is an infrequent disease characterized by chronic recurrent swelling of one lip or both lips. It is considered as one of the three main symptoms of the triad of the Melkersson-Rosenthal syndrome, although in many cases it may develop monosymptomatically. The initial management is based on the administration of corticoids, followed in many cases by the use of other systemic treatments. Nevertheless, because recurrence is quite frequent, surgery remains in many cases as the only definitive treatment. In this report we present the case of a Caucasian woman with Miescher's cheilitis who was successfully surgically managed.

Association between cheilitis granulomatosa and odontogenic infections: A case-control study.

The association between cheilitis granulomatosa and dental infections (dental caries and apical periodontitis) is still not well understood. Herein, we aimed to investigate the association in large hospital cases with cohort controls. Cheilitis granulomatosa cases (n = 181) were retrieved from Peking University Hospital of Stomatology and age- and sex-matched to controls (n = 181). The χ2 -test, Student's t-test, and Mann-Whitney U-test were used to compare the differences between groups. The χ2 -test and odds ratio were used to verify if there was an association and risk relationship. The results showed that both dental caries and apical periodontitis were associated with cheilitis granulomatosa (p < 0.001). Individuals with cheilitis granulomatosa had approximately a twofold increased frequency of dental caries than those without cheilitis granulomatosa (104/181, 57.5% vs. 53/181, 29.3%) (p < 0.001). The odds ratio of dental caries occurring in the case group compared to the control group was 3.211. The frequency of apical periodontitis in patients with cheilitis granulomatosa was significantly greater than in those without cheilitis granulomatosa (109/181, 60.2% vs. 28/181, 15.5%) (p < 0.001). The odds ratio was 8.272. Moreover, apical periodontitis was also locationally related to cheilitis granulomatosa (p < 0.001). Collectively, our study showed that the foci of dental infections are associated with cheilitis granulomatosa, suggesting that proper treatment of focal teeth may be important in the management of cheilitis granulomatosa.

An interesting case of lip swelling!

Melkersson-Rosenthal Syndrome (also termed "Miescher-Melkersson-Rosenthal Syndrome") or (MRS), is a rare neurocutaneous disorder characterized by the clinical triad of recurring facial nerve paralysis, swelling of one or both lips and fissural tongue. We report a patient with Melkersson-Rosenthal Syndrome initially referred to Dermatology Department as angioedema. The diagnosis and treatment procedures were presented with special emphasis to the clinical features of this rare condition.

Research progress on Melkersson-Rosenthal syndrome.

Melkersson-Rosenthal syndrome (MRS) is a rare neuro-muco-cutaneous syndrome, which is characterized by recurrent orofacial swelling, recurrent facial paralysis and fissured tongue. It has a high prevalence in young adults. Up to now, the etiology of MRS is still not clear, it may related to infection, immune deficiency and hereditary factors. The pharmacological therapy and surgery are the main treatment. Corticosteroids seems to be the drug of choice for MRS patient, but the specific dosage and therapeutic effect have not yet been determined. Surgeries of lips provide excellent results in persistentlip edema MRS cases. This article reviews the research progress on MRS, focusing on its epidemiology, etiology, histopathological characteristics, clinical manifestations, classification, diagnostic criteria, differential diagnosis and treatment, to provide information for its early diagnosis and appropriate treatment.

Síndrome de Miescher-Melkersson-Rosenthal: Presentación de tres casos y revisión de la literatura / Miescher-Melkersson-Rosenthal Syndrome: Three cases reports and literature review

RESUMEN El síndrome de Miescher-Melkerson-Rosenthal es una condición clínica poco frecuente caracterizada por un edema orofacial episódico, paresia facial periférica recurrente, lengua geográfica (lingua plicata) y granulomas en biopsia de piel o labial. Se ha reportado más frecuentemente en mujeres, y su incidencia es probablemente subestimada por el desconocimiento del síndrome, su presentación clínica incompleta y la plétora de diagnósticos diferenciales. Se debe considerar en pacientes que presenten al menos dos de las cuatro características mencionadas. Su tratamiento, con esteroides vía oral, está dirigido a los episodios de edema orofacial y/o paresia facial. A continuación se describen tres casos del síndrome valorados en el servicio de neurología de la Fundación Cardioinfantil y se presenta una breve revisión de la literatura.

SUMMARY Miescher-Melkerson-Rosenthal syndrome is an uncommon clinical condition characterized by episodic orofacial oedema, recurrent peripheral facial paralysis, geographic tongue (lingua plicata) and granulomas in skin or labial biopsy. It is reported more frequently in women, and its incidence is probably underestimated due to lack of knowledge of the syndrome, incomplete clinical presentation and the plethora of differential diagnosis. It should be considered in patients with at least two of the four mentioned characteristics. Its treatment, with oral steroids, is directed at the episodes of orofacial oedema and/or the facial paralysis. We described three cases of the syndrome seen at the Fundacion Cardioinfantil's neurology service and present a short review of the literature.