1. Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology
- Author
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Henriqueta Coimbra Silva, Elisabete Peres Resende, Ana C. Antunes, Maria Teresa Xavier, and Sérgio Matos
- Subjects
Male ,Proband ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Germline mosaicism ,Disease ,Gingivectomy ,03 medical and health sciences ,0302 clinical medicine ,Genetic linkage ,medicine ,Humans ,030212 general & internal medicine ,General Dentistry ,Fibromatosis, Gingival ,Gingival Overgrowth ,business.industry ,030206 dentistry ,medicine.disease ,Dermatology ,Hereditary gingival fibromatosis ,Gingival Hypertrophy ,business ,Rare disease - Abstract
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.
- Published
- 2020
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