RESUMO
BACKGROUND Recurrent facial nerve palsy, orofacial edema, and fissured tongue are a triad of manifestations that characterize a rare disorder named Melkersson-Rosenthal syndrome. It is important to consider this syndrome when diagnosing atypical, unilateral, or bilateral facial palsies with characteristics of familial prevalence. There is no established outcome prediction for this disease and the syndrome does not have a specific duration or prospective timeline. Recurrent facial paralysis can require surgery and a multidisciplinary approach with regular follow-up. CASE REPORT We describe a 38-year-old woman presenting with a third episode of facial paralysis and discuss her pedigree chart and the treatment course chosen. After conservative treatment with oral corticosteroids, antiviral therapy, and motor physical therapy with no significant improvements, the patient underwent facial nerve decompression surgery with outstanding results. Eight months after surgery and intense postoperative physical therapy, the patient improved from grade VI to grade II palsy on the House-Brackmann Scale. The patient's older brother also presented a fissured tongue and had a history of 2 episodes of facial paralysis. The patient's son, mother, and sister also presented tongue fissuring but did not have any other clinical signs of the syndrome. CONCLUSIONS Despite being rare, Melkersson-Rosenthal syndrome is associated with a family inheritance and its diagnosis has prognostic implications. Therefore, it is of the utmost importance to have suspicion of this disorder in order to improve quality of care and target the treatment accordingly. Surgical treatment in these cases seems to be an excellent choice to treat current facial paralysis and prevent further episodes.
Assuntos
Paralisia de Bell , Paralisia Facial , Síndrome de Melkersson-Rosenthal , Língua Fissurada , Masculino , Feminino , Humanos , Adulto , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/cirurgia , Síndrome de Melkersson-Rosenthal/complicações , Paralisia Facial/etiologia , Língua Fissurada/complicações , Estudos Prospectivos , Resultado do TratamentoAssuntos
Síndrome de Melkersson-Rosenthal , Adolescente , Criança , Diagnóstico Diferencial , HumanosRESUMO
BACKGROUND: Melkersson-Rosenthal syndrome (MRS) is a rare disease characterized by the triad of granulomatous cheilitis, fissured tongue, and facial paralysis. Publications concerning large series are rare in the literature. OBJECTIVES: To describe the clinical and histopathological characteristics of patients with complete and oligosymptomatic forms of MRS. METHODS: A retrospective records review was performed for the diagnoses of Melkersson-Rosenthal syndrome, granulomatous cheilitis, and orofacial granulomatosis at oral Diseases Clinic of the Department of Dermatology, University of São Paulo, Brazil (2003, 2017). RESULTS: A total of 51 patients were included, mean age at presentation 35.69 years. Four patients were younger than 18 years. The complete triad of was observed in 10 patients. The rare findings of granulomatous blepharitis, gingivitis and palatitis are presented. Comorbidities included Crohn's disease (5 patients), migraine headaches (1 patient) and convulsions (2 patients). Granulomatous inflammatory infiltrate was detected in 31 biopsies. Medical therapies included included oral and intralesional steroids, thalidomide, dapsone, azathioprine, tetracycline, methotrexate, and surgery, with variable responses. CONCLUSIONS: Our report meant to draw attention to the clinical spectrum of this rare disorder, mainly to oligosymptomatic forms and rarer presentations.
Assuntos
Granulomatose Orofacial/diagnóstico , Síndrome de Melkersson-Rosenthal/diagnóstico , Adolescente , Adulto , Brasil , Comorbidade , Feminino , Granulomatose Orofacial/tratamento farmacológico , Humanos , Masculino , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Estudos RetrospectivosRESUMO
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.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Granulomatose Orofacial , Síndrome de Melkersson-Rosenthal/diagnóstico , Diagnóstico Diferencial , Hipersensibilidade Alimentar/etiologia , Angioedema/complicações , Síndrome de Melkersson-Rosenthal/terapiaRESUMO
BACKGROUND: Melkersson-Rosenthal syndrome (MRS) is a rare disease characterized by the triad of recurrent orofacial edema, relapsing facial paralysis and plicated tongue. Histopathological features of MRS have not been extensively analyzed. METHODS: This study investigated the histopathological aspects of oral lesions from 47 MRS patients. RESULTS: The most common biopsy site was the upper lip, followed by the lower lip, gingiva and palate. The most important findings were ill-defined and well-formed granulomas. Lymphoplasmacytic inflammatory infiltrate was seen in early and late stages of MRS. Edema, fibrosis, vasodilatation and congestion were the most common finding in the lamina propria. Gingival and palate exams also demonstrated granulomatous infiltrates. Regarding the evolution time of the disease, we demonstrated that, in initial phases, there is a lymphoplasmacytic inflammatory infiltrates, followed by a granulomatous infiltrate and, subsequently, fibrosis. CONCLUSION: Histopathological examination of oral lesions is helpful for the diagnosis of MRS; the absence of granulomatous inflammation does not exclude the diagnosis of syndrome. Clinical and histopathological analysis of the rare gingival and palate lesions is important, since all histopathological findings of the disease were detected in these sites.
Assuntos
Síndrome de Melkersson-Rosenthal/patologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
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.
Assuntos
Humanos , Masculino , Adolescente , Língua Fissurada/etiologia , Edema/etiologia , Nervo Facial/fisiopatologia , Síndrome de Melkersson-Rosenthal/fisiopatologia , Paralisia/etiologia , Síndrome de Melkersson-Rosenthal/diagnósticoRESUMO
Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease that manifests by the triad of recurrent orofacial edema (frequently as cheilitis granulomatosa), relapsing facial paralysis and plicated tongue. The cause of MRS remains unknown, but genetic predisposal and a relationship with inflammatory bowel disease are suspected. The objective of this research was to compare the frequency of class I and II HLA alleles in patients with a confirmed diagnosis of MRS with those of a healthy control group. We conduct a case-control study and typed of HLA A, B, C, DR, and DQ using molecular techniques. The study included 36 patients with MRS and 297 patients in the control group. There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277]), HLA DRB1*13 (not statistically significant) and HLA DQB1*03 (p = 0,0177; OR: 1,829 [1,122-2,978]) and low levels of HLA A*01 (p = 0.0046; OR: 0,097 [0,009-0,538]), HLA DRB1*04 (p = 0.0274; OR: 0,228 [0,053-0,844]), HLA DRB1*07 (p = 0,0091; OR: 0,183 [0,043-0,670]) and HLA DQB1*02 (p = 0.0051; OR: 0,312 [0,143-0,721]) in MRS patients compared with the control group. Crohn disease (CD) patients had disparate genetic profiles versus those with MRS. This single-institution study had a small cohort, because this disease is rare. Conclusions: There is a genetic predisposition toward MRS, involving associated and protective genes.
Assuntos
Alelos , Cadeias HLA-DRB1/genética , Complexo Principal de Histocompatibilidade/genética , Síndrome de Melkersson-Rosenthal/genética , Adolescente , Adulto , Idoso , Brasil , Estudos de Casos e Controles , Criança , Pré-Escolar , Doença de Crohn/genética , Feminino , Genes MHC Classe I/genética , Genes MHC da Classe II/genética , Predisposição Genética para Doença , Granulomatose Orofacial/genética , Cadeias beta de HLA-DQ , Humanos , Lactente , Doenças Inflamatórias Intestinais , Masculino , Pessoa de Meia-Idade , Pacientes , Adulto JovemRESUMO
BACKGROUND: Melkersson-Rosenthal syndrome is a rare disorder that is characterized, in its full form, by recurrent facial nerve palsy, fissured tongue, and orofacial edema. Most cases present as oligosymptomatic or monosymptomatic forms. Its etiology is still unknown and its course is chronic and it may be progressive. CASE REPORT: We present the case of a nine-year-old girl with recurrent episodes of peripheral facial nerve palsy. During the study, lip edema, benign migratory glossitis, and angular cheilitis were observed, which is why a clinical diagnosis of Melkersson-Rosenthal syndrome was made. CONCLUSIONS: This syndrome must be considered in the differential diagnosis with the presence of acute peripheral facial nerve palsy and/or facial edema due to its behavior and progressive evolution.
Antecedentes: El síndrome de Melkersson-Rosenthal es una entidad poco frecuente caracterizada, en su forma completa, por parálisis facial recurrente, lengua fisurada y edema orofacial. La mayoría de los casos se presentan como formas oligosintomáticas y monosintomáticas. Su etiología es aún desconocida y tiene un curso crónico que puede ser progresivo. Caso clínico: Presentamos el caso de una niña de nueve años de edad con episodios recurrentes de parálisis facial periférica. Durante su estudio se observó edema labial, glositis migratoria benigna y queilitis angular, por lo que se formuló el diagnóstico clínico de síndrome de Melkersson-Rosenthal. Conclusión: Debemos considerar este síndrome dentro del diagnóstico diferencial ante la presencia de parálisis facial periférica recurrente o edema facial, debido a su comportamiento y evolución progresiva.
Assuntos
Nervo Facial , Síndrome de Melkersson-Rosenthal , Criança , Diagnóstico Diferencial , Edema/etiologia , Feminino , Humanos , Síndrome de Melkersson-Rosenthal/complicações , Síndrome de Melkersson-Rosenthal/diagnóstico , ParalisiaRESUMO
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.