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.

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.

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.

Research progress on Melkersson-Rosenthal syndrome / 浙江大学学报·医学版

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.

Queilitis granulomatosa, a propósito de dos casos / Granulomatous cheilitis, regarding two cases

La queilitis granulomatosa es una entidad granulomatosa no infecciosa, poco frecuente, que se presenta como un aumento de volumen persistente de la región orofacial. El estudio histológico, junto con la exclusión de otras patologías granulomatosas son necesarios para su diagnóstico, especialmente cuando no se presenta con la triada clásica del Síndrome de Merkelsson Rosenthal. Presentamos dos casos de queilitis granulomatosa y una revisión de la literatura disponible.

Granulomatous cheilitis is a rare, non-infectious, granulomatous entity that presents as a persistent swelling of the orofacial region. Histological study together with the exclusion of other granulomatous diseases are necessary for the diagnosis, especially when the presentation is not the classic triad of Merkelsson Rosenthal Syndrome. We present two cases of granulomatous cheilitis and a review of the available literature.

Melkersson-rosenthal: reporte de caso clínico de una neurodermatosis infrecuente / Melkersson-rosenthal syndrome: case report of an uncommon neurodermatosis

Resumen: El síndrome de Melkersson-Rosenthal (SMR) es una entidad clínica rara, de patogénesis desconocida. Se manifiesta característicamente por edema orofacial recidivante, lengua fisurada y parálisis recurrente del nervio facial. Representando así undesafío diagnóstico y terapéutico, además de generar importante compromiso social al individuo acometido. El presente artículo tiene como objetivo describir el caso de un paciente de 15años de edad que presentó: edema labial, lengua fisurada y queilitis granulomatosa al examen histopatológico, llevándose a consideración la hipótesis del síndrome citado, con resultados satisfactorios al tratamiento establecido.

Abstract: Melkersson-Rosenthal syndrome (MRS) is a rare clinical entity with an unknown pathogenesis. It clinically manifests in orofacial edema, plicated tongue and recurrent paralysis of the facial nerve. It represents a diagnostic and therapeutic challenge, and has an important psycosocial impact on the affected individual. This study describes the case of a 15-year-old patient who presented with labial edema, plicated tongue and granulomatous cheilitis on histopathological examination, for which a diagnosis of MRS was proposed. The patient showed a good response to treatment.

Síndrome de Melkersson-Rosenthal / Melkersson-Rosenthal syndrome

A síndrome de Melkersson-Rosenthal é uma doença rara que pode se apresentar como uma tríade clássica de edema orofacial, paralisia facial e língua fissurada ou, mais frequentemente, com características oligo/monossintomáticas. Relatamos um caso que aportou a um alergista para o diagnóstico de um angioedema, e que na avaliação se configurou como a síndrome completa. Diagnósticos diferenciais com angioedema alérgico, hereditário, idiopático e com outras patologias devem ser considerados. Apesar de o diagnóstico ser clínico, a biópsia cutânea foi relevante. Objetivamos alertar o especialista que se depara com angioedema crônico recorrente sobre essa patologia.

Melkersson-Rosenthal syndrome is a rare disease that may present as the classic triad of orofacial edema, facial paralysis, and fissured tongue or, more often, with oligosymptomatic/ monosymptomatic features. We report a case referred to an allergist for the diagnosis of angioedema that was identified as a complete syndrome during evaluation. Differential diagnoses with allergic, hereditary, and idiopathic angioedema and with other diseases should be considered. Although the diagnosis is clinical, skin biopsy is relevant. Our goal is to alert specialists who deal with chronic recurrent angioedema to the possibility of this syndrome.

Three Cases of Recurrent Cheilitis Granulomatosa Treated with Variable Combination Therapy / 대한피부과학회지

Cheilitis granulomatosa (CG) is a subset of orofacial granulomatosis (OFG) and considered to be a monosymptomatic form of Melkersson-Rosenthal syndrome (MRS), which is characterized by the triad of chronic lip swelling, facial paralysis, and fissured tongue. The labial swelling is thought to be associated with an orofacial swelling, which affects the chin, cheeks, and oral mucosa. Histologically, it is distinguished by noncaseating granulomas consisting of lymphohistiocytes and giant cells. Although systemic steroids with or without intralesional triamcinolone injections are the mainstay of treatment, and various agents have been proposed for this rare disease, no successful treatment modality has been reported in the literature yet. Herein, we present our experience with three different CG cases, which showed a varied level of positive response to the combination therapy.

Orofacial granulomatosis and diet therapy: a review of the literature and two clinical cases

Abstract: Orofacial granulomatosis is a nonspecific term that contains a wide variety of granulomatous entities, which share a clinical and histopathological presentation. It manifests as persistent or recurrent orofacial swelling, amongst other findings. Idiopathic orofacial granulomatosis, characterized by an absence of systemic granulomatous disease, is a diagnosis of exclusion. The main differential diagnosis is Crohn's disease. Its pathogenesis is unknown, however, it seems to be immune-mediated. Patch-test sensitivity to multiple allergens is well documented. Currently, therapeutic options consider restrictive diets, topical, intralesional, and systemic agents. First-line therapy is currently a matter of debate. We present a review of the value of diet therapy in this syndrome, along with two illustrative cases.

Síndrome de Melkersson-Rosenthal: Presentación de dos casos pediátricos / Melkersson Rosenthal syndrome: Report of two pediatric cases

El síndrome de Melkersson-Rosenthal es una enfermedad muy poco frecuente en el paciente adulto y excepcional en la niñez y la adolescencia. El reciente trabajo publicado por G. Kayabasoglu et al., afirma que solo 30 pacientes se han descrito en la literatura internacional en edad pediátrica. Es de etiología desconocida, de curso crónico y progresivo, con compromiso neuromucocutáneo que afecta la inervación orofacial con infiltración granulomatosa no caseificante. Clínicamente, se caracteriza por una tríada diagnóstica: edema recurrente de labios y/o cara, parálisis facial periférica aguda recurrente y alternante, y lengua escrotal o geográfica. Existen presentaciones oligosintomáticas y monosintomáticas. Se describen dos pacientes de 7 y 11 años de edad, con presentación completa en un caso y oligosintomática en el otro. Consideramos tener en cuenta esta enfermedad infrecuente como diagnóstico diferencial ante la presencia de parálisis facial periférica aguda recurrente y/o edema de hemicara o labios por su comportamiento evolutivo.

Melkersson Rosenthal syndrome is a very infrequent disease of unknown etiology, chronic and progressive course, with neurocutaneous disease that affects the orofacial innervation and mucocutaneous tissues with non-caseating granulomatous infiltration. Clinically, it is characterized by the diagnostic triad: recurrent edema of lips and/or face; recurrent and alternating acute peripheral facial paralysis and scrotal or geographic tongue. The condition generally presents as oligosymptomatic or monosymptomatic form. Two patients are presented with completed triad and oligosymptomatic form. This recent review published by G. Kayabasoglu et al. states that only 30 patients have been described in the international literature in childhood. So we consider this disease in the differential diagnosis in the presence of acute peripheral facial paralysis and/or lips or facial edema.

Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.

Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.

Cheilitis granulomatosa associated with lupus erythematosus discoid and treated with methotrexate: report of a case

We present the rare case of a 47-year-old patient, suffering from cheilitis granulomatosa and lupus erythematosus discoid: this association is really exceptional because only once reported in English literature. In addition, the treatment of cheilitis granulomatosa is a challenge for the dermatologist: the gold standard, represented by steroids, is in fact designed as a short-time option. Our report confi rms the good efficacy of methotrexate as a steroid-sparing agent.

Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis.

We report a rare presentation of Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis. A 45-year-old male being treated with antitubercular therapy for tubercular panuveitis presented with unilateral, non-pitting right upper eyelid edema. Excision biopsy showed granulomatous inflammation involving the lymphatics. Immunohistochemistry confirmed the presence of histiocytes around the lymphatics.

Queilite granulomatosa associada à síndrome de Melkersson-Rosenthal / Cheilitis granulomatosa associated with melkersson-rosenthal syndrome

A síndrome de Melkerson-Rosenthal (SMR) caracteriza-se por edema orofacial, paralisia facial recorrente e língua plicada. A tríade completa é incomum, com freqüência variando de 8 a 25 por cento, sendo que a apresentação mais comum é a presença de somente um sintoma. A queixa mais freqüente é o edema facial e/ou no lábio. No presente relato, descreve-se o caso de uma jovem, 17 anos, com edema no lábio persistente e língua plicada devido à SMR. A paciente informou que o edema e as alterações na língua haviam se iniciado há 2 anos. Tratamentos prévios haviam sido realizados, porém sem sucesso. Propôs-se a injeção intralesional de 20mg de triancinolona a cada 15 dias, associada a 5mg ao dia de clofazimine por três meses. O lábio voltou ao seu aspecto normal após quatro infiltrações da medicação. Estudos recentes têm considerado a SMR como uma doença granulomatosa, sendo a fase inicial da apresentação orofacial da Doença de Crohn em alguns pacientes. Assim, pacientes com SMR deveriam ser avaliados e seguidos quanto à presença de sintomas gastroenterológicos. O tratamento com corticosteróides tem se mostrado efetivo em reduzir a tumefação do lábio associada a essa doença. Discute-se características clínicas, tratamento e importância da terapia com corticosteróides na paralisia facial associada à SMR.

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 percent. The presentation of only one symptom is more common. The most frequent complaint is facial edema and enlargement of the lips. We describe a case of a 17-year-old Brazilian girl with limited edema of the lower lip and fissured tongue due to MRS. Her complaints had started two years before. She referred previous clinical treatments without success. We proposed intralesional injection of triamcinolone at 20 mg every 15 days associated with oral clofazimine at 50 mg/day for three months. The lip became normal after four triamcinolone injections. Recent studies have considered MRS a granulomatous disease, and possibly the initial presentation of CrohnÆs disease in orofacial area of some patients. MRS patients, therefore, should be screened and monitored for gastrointestinal symptoms. Corticosteroid treatment seems to be effective in reducing lip enlargement. We discus the clinical features of this disease, the treatment, and the importance of corticosteroid therapy in cases of MRS-related facial palsy.

Síndrome de meleersson- rosenthal. reporte de dos caoos / Melkersson-Rosenthal syndrome. Two cases report

Se presentan dos casos de pacientes portadores de parálisis faciales periféricas, diagnosticados como síndromes de Melkersson Rosenthal, incluidas dentro de las causas idiopáticas de esta entidad. Sus características principales estuvieron dadas por la típica lengua fisurada congénita, edema faciolabial y parálisis facial recurrente. Se describe en la literatura la tendencia familiar de esta enfermedad.

Two cases of patients carriers of peripheral facial paralyses are presented, diagnosed as Melkersson- Rosenthal syndromes, included within the idiopathic causes of this entity. Its main characteristics were given by, the typical congenital fissured tongue, facio-labial edema and recurrent facial paralysis. It is described in the literature the family tendency of this illness.

A Case of Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome is a rare condition and clinical diagnosis was established on the basis of the triad: facial or lip edema, peripheral facial palsy and scrotal or plicated tongue. Labial swelling(Cheilitis granulomatosa) is the most common feature of this syndrome complex. The lips may enlarge up to three times their normal size, resulting in aesthetic deformity and functional disability. The condition appears to be a granulomatous disorder causing edema and inflammation of the soft tissues of the face, lips, oral cavity and particularly, the facial nerve. Traditional medical interventions are only marginally successful in treating this syndrome. We report the case of a young man with cheilitis granulomatosa as a manifestation of Melkersson-Rosenthal syndrome successfully treated by transverse and vertical star-shaped resection with a transmodiolar labial suspension suture at mouth angle. Our result shows symmetry of the lip, a normalized anterior projection, dimensional harmony between upper and lower lip and no disfiguring cicatrices.

A Case of Melkersson-Rosenthal Syndrome

Melkersson-Rosenthal syndrome(MRS) is a rare disorder, having a symptom triad of recurrent facial palsy, orofacial swelling and fissured tongue(lingua plicata). This disorder is usually recurrent or progressive, and monosymptomatic or oligosymptomatic forms have been reported to be more common than classic forms. Generally, MRS occurs in young adults at the end of the second decade of life and incidence of the disease in childhood is known to be very low. Although the clinical manifestation of MRS in children is similar to that in adults, early diagnosis and management is essential to avoid long-lasting functional disorders and psychological problems. We experienced MRS in a 13 year old boy with a history of recurrent facial palsy. We report this case with review of related literature.

Two Cases of Cheilitis Granulomatosa / 대한피부과학회지

Cheilitis granulomatosa as a monosymtomatic form of the Melkersson-Rosenthal sydrome, was charaterized by reccurrent or persistent edema in the orofacial lesion that could not be explained on the basis of infections, systemic, malignant, or connective tissue disorders. Herein we report two cases of cheilitis granulomatosa which have been treated with triamcinolone acetonide intralesional injection, hydroxychloroquine 400mg per day. After a short course of systemic steroids the swelling of the lip improved.

A case of Melkersson-Rosenthal syndrome / 대한피부과학회지

Melkersson-Rosenthal syndrome(MRS) is a rare neuro-muco-cutaneous disease of unknown origin. The classic triad of this clinically defined entity consists of orofacial swelling, facial nerve palsy, and lingua plitica. MRS may occur as a complete triad of symptoms or a combination of any features of the classic triad, termed monosymptomatic and oligosymptomatic forms. The complete triad has been reported to occur in only 10% to 20% in different series. Because of the rarity of reported cases in Korea, we report a case of complete form of MRS, in which clofazimine showed a partial response.