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Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology
Author(s) -
Resende Elisabete Peres,
Xavier Maria Teresa,
Matos Sérgio,
Antunes Ana C.,
Silva Henriqueta Coimbra
Publication year - 2020
Publication title -
special care in dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.328
H-Index - 41
eISSN - 1754-4505
pISSN - 0275-1879
DOI - 10.1111/scd.12458
Subject(s) - proband , penetrance , medicine , expressivity , gingivectomy , etiology , disease , dermatology , genetic linkage , rare disease , genetics , family history , genetic testing , inheritance (genetic algorithm) , pathology , mutation , gene , phenotype , dentistry , biology
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.