Laboratory of Oral Histopathology, Health Sciences Faculty, University of Brasília, Brasília, Brazil.
Faculty of Dentistry, University of Rio Verde, Rio Verde, Brazil.
Oral Dis. 2021 May;27(4):881-893. doi: 10.1111/odi.13369. Epub 2020 May 25.
The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF).
A comprehensive search of PubMed, LILACS, Livivo, Scopus, and Web of Science was conducted using key terms relevant to the research questions and supplemented by a gray literature search. The Methodological Quality and Synthesis of Case Series and Case Reports in association with the Case Series and Prevalence Studies from the Joanna Briggs Institute critical appraisal tools were used for the risk of bias. We followed the PRISMA checklist guidelines.
Eighty-four studies reporting GF as an oral manifestation of a syndrome were identified in this review. Enamel renal syndrome was the most frequently reported syndrome with GF, represented by 54 individuals in 19 studies, followed by Zimmermann-Laband syndrome with 24 individuals in 15 studies and Costello syndrome, which was presented in a case series study with 41 individuals. Among reported cases, other clinical manifestations such as hypertrichosis, ectopic gingival calcification, and cherubism were described.
The results emphasize the need of systematic oro-dental-facial phenotyping for future descriptions as well as further molecular analysis in order to better understand the occurrence of syndromic GF.
本系统评价旨在描述伴发牙龈纤维瘤病（GF）的综合征的表型和分子特征。
我们对 PubMed、LILACS、Livivo、Scopus 和 Web of Science 进行了全面检索，使用与研究问题相关的关键词，并辅以灰色文献检索。采用 Joanna Briggs 研究所的病例系列和发病研究的病例系列和病例报告的方法学质量和综合评估工具，以及病例系列和发病研究的偏倚风险评估工具，对风险进行评估。我们遵循 PRISMA 清单指南。
本综述共确定了 84 项报告 GF 为综合征口腔表现的研究。伴发 GF 的最常见综合征是牙-肾综合征，在 19 项研究中有 54 例患者，其次是 Zimmermann-Laband 综合征，在 15 项研究中有 24 例患者，以及 Costello 综合征，在一项病例系列研究中有 41 例患者。在报告的病例中，还描述了其他临床表现，如多毛症、异位牙龈钙化和 cherubism。
研究结果强调了未来进行系统的口腔-牙齿-面部表型分析以及进一步进行分子分析的必要性，以便更好地了解综合征性 GF 的发生。
