Melkersson-Rosenthal syndrome: epidemiological, histopathological and serological profile and the interface with orofacial granulomatosis diagnosis

• Grant number: 17/26990-8
• Support Opportunities: Regular Research Grants
• Start date: June 01, 2018
• End date: September 30, 2021
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Marcello Menta Simonsen Nico
• Grantee: Marcello Menta Simonsen Nico
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Camila Fátima Biancardi Gavioli ; Silvia Vanessa Lourenço

Abstract

Melkersson-Rosenthal syndrome (MRS) is characterized by the triad of persistent or recurrent labial and/or facial edema (associated or not to granulomatous tissues), persistent facial palsy and fissured tongue. Due to its rarity, the pathophysiology and etiology of the disease remain unknown, and the scientific evidence about the clinical behavior of MRS are still scarce due to its heterogeneity and the absence of a stablished consensus regarding the association to inflammatory disorders, such as Crohn's disease. The possibility of the genetic involvement among the etiologic factors of the disease is promising, as the association between the HLAs alleles to the development of metabolic, inflammatory and autoimmune diseases. The HLAs associated to the class II major histocompatibility complex (MHC II) may influence diseases mediated by immunological cells for its participation in selection and activation of T lymphocytes subtypes T helper 1 (Th1), Th2 and Th17, thus these HLAs may play a role in the secretion of inflammatory cytokines mediated by these cells. Therefore, the aim of this study is to establish an epidemiological and serological profile of MRS, by HLA characterization using PCR-SSO, and the expressed allele correlation with the inflammatory response development, evaluated by salivary and blood concentration levels of inflammatory cytokines and the characterization of cellular components by immunohistochemistry. These results may point out to specific biomarkers that, in the future, may allow the accurate diagnosis of Melkersson-Rosenthal Syndrome. (AU)

Scientific publications

(5)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

BIANCARDI GAVIOLI, CAMILA FATIMA; AMORIM CIDADE, YASMIN DA SILVA; FLOREZI, GIOVANNA PIACENZA; LOURENCO, SILVIA VANESSA; SIMONSEN NICO, MARCELLO MENTA. Melkersson-Rosenthal syndrome in children and adolescents: a series of seven cases. ANAIS BRASILEIROS DE DERMATOLOGIA, v. 97, n. 5, p. 6-pg., 2022-09-01. (17/26990-8)

GAVIOLI, CAMILA F. B.; NICO, MARCELLO M. S.; PANAJOTOPOULOS, NICOLAS; RODRIGUES, HELCIO; ROSALES, CLAUDIA B.; VALENTE, NEUSA Y. S.; FLOREZI, GIOVANNA P.; LOURENCO, SILVIA, V. A case-control study of HLA alleles in Brazilian patients with Melkersson-Rosenthal syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 63, n. 7, p. 5-pg., 2020-07-01. (17/26990-8)

GAVIOLI, CAMILA FATIMA BIANCARDI; FLOREZI, GIOVANNA PIACENZA; DABRONZO, MARIA LUIZA DUCATI; JIMENEZ, MARCELA RICAURTE; NICO, MARCELLO MENTA SIMONSEN; LOURENCO, SILVIA VANESSA. Orofacial Granulomatosis and Crohn Disease: Coincidence or Pattern? A Systematic Review. DERMATOLOGY, v. 237, n. 4, p. 635-640, JUN 2021. (17/26990-8)

GAVIOLI, CAMILA F. B.; FLOREZI, GIOVANNA P.; LOURENCO, V, SILVIA; NICO, MARCELLO M. S.. Clinical Profile of Melkersson-Rosenthal Syndrome/Orofacial Granulomatosis: A Review of 51 Patients. JOURNAL OF CUTANEOUS MEDICINE AND SURGERY, v. 25, n. 4, p. 390-396, JUL 2021. (17/26990-8)

GAVIOLI, CAMILA FATIMA BIANCARDI; NICO, MARCELLO MENTA SIMONSEN; FLOREZI, GIOVANNA PIACENZA; LOURENCO, SILVIA VANESSA. The histopathological spectrum ofMelkersson-Rosenthalsyndrome: Analysis of 47 cases. JOURNAL OF CUTANEOUS PATHOLOGY, v. 47, n. 11, AUG 2020. (17/26990-8)