Häkkinen L, Csiszar A
University of British Columbia, Faculty of Dentistry, Department of Oral Biological and Medical Sciences, Laboratory of Periodontal Biology, Vancouver, BC, Canada V6T 1Z3.
J Dent Res. 2007 Jan;86(1):25-34. doi: 10.1177/154405910708600104.
Hereditary gingival fibromatosis (HGF) is a rare condition that can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. In severe cases, the gingival enlargement may cover the crowns of teeth and cause severe functional and esthetic concerns. Histological and cell culture studies have uncovered some of the molecular and cellular changes associated with HGF. However, the pathogenesis of the disease is still largely unknown. Recent studies about the genetic characteristics of HGF have provided novel clues about the potential pathogenic mechanisms. In particular, mutation in the son-of-sevenless (SOS-1) gene has been associated with one form of the disease. However, HGF displays genetic heterogeneity, and mutations in other genes are also likely involved. This review outlines the current knowledge about the histological, cellular, and genetic characteristics of HGF. In addition, the potential role of the SOS-1 molecule and related novel intracellular signaling pathways in the pathogenesis of HGF will be discussed.
遗传性牙龈纤维瘤病（HGF）是一种罕见病症，可作为一种孤立性疾病出现，或作为综合征或染色体异常的一部分出现。在严重情况下，牙龈增生可能覆盖牙冠，引发严重的功能和美观问题。组织学和细胞培养研究已经揭示了一些与HGF相关的分子和细胞变化。然而，该疾病的发病机制在很大程度上仍不清楚。最近关于HGF遗传特征的研究为潜在的致病机制提供了新线索。特别是，七号less之子（SOS-1）基因的突变与该病的一种形式有关。然而，HGF表现出遗传异质性，其他基因的突变也可能参与其中。本综述概述了目前关于HGF组织学、细胞和遗传特征的知识。此外，还将讨论SOS-1分子及相关新的细胞内信号通路在HGF发病机制中的潜在作用。
