%0 Case Reports
%T Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology.
%A Resende EP
%A Xavier MT
%A Matos S
%A Antunes AC
%A Silva HC
%J Spec Care Dentist
%V 40
%N 3
%D May 2020
%M 32413193
暂无%R 10.1111/scd.12458
%X Our aim is to describe a family with a nonsyndromic form of hereditary gingival fibromatosis (HGF) and discuss genetic characteristics of this rare disease by reviewing reported cases. A mother and three descendants were diagnosed with HGF. There was marked variable expressivity: from severe generalized gingival overgrowth in a 16-year-old boy (the proband) to minimal manifestations in the mother. The proband was submitted to gingivectomy and gingivoplasty. In younger siblings, the disease remained stable for 5 years, suggesting that clinical surveillance is a good option. The diagnosis was supported by histopathological examination. Analysis of this family and literature-reported cases supports that HGF most frequently shows an autosomal dominant inheritance with high penetrance and variable expressivity. Neomutations and gonadal mosaicism do not seem to be a rare event. Although five loci have been mapped by linkage analysis, only two genes, SOS1 and REST, were identified in four families.