RESUMO
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
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.