Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology
| Autor: | Henriqueta Coimbra Silva, Elisabete Peres Resende, Ana C. Antunes, Maria Teresa Xavier, Sérgio Matos |
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| Rok vydání: | 2020 |
| Předmět: |
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 |
| Zdroj: | Special Care in Dentistry. 40:320-328 |
| ISSN: | 1754-4505 0275-1879 |
| DOI: | 10.1111/scd.12458 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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