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Hereditary gingival hyperplasia associated with amelogenesis imperfecta: a case report
Luigi Nibali1, Peter M Brett, Nikos Donos
1UCL Eastman Dental Institute, London, England. l.nibali@eastman.ucl.ac.uk
Quintessence International (Berlin, Germany : 1985)
|April 26, 2012
Summary
This study reports a rare case of hereditary gingival fibromatosis (HGF) and amelogenesis imperfecta (AI) in a teenager. Genetic analysis did not identify known mutations, suggesting a potential new genetic syndrome.
Area of Science:
- Genetics
- Oral Medicine
- Pathology
Background:
- Hereditary gingival fibromatosis (HGF) and amelogenesis imperfecta (AI) are rare genetic oral disorders.
- These conditions often require complex management strategies.
Observation:
- A 17-year-old male presented with HGF, AI, anterior open bite, and impacted maxillary molars.
- Family members exhibited milder forms of HGF and AI.
- Histologic analysis confirmed fibroepithelial hyperplasia consistent with gingival fibromatosis.
Findings:
- Genetic sequencing failed to detect known mutations in SOS-1 (HGF) or enamelin/amelogenin genes (AI).
- The patient's phenotype, observed in other families, suggests a novel genetic etiology.
Implications:
- This case highlights a potential new syndrome with an unidentified genotype.
- Further research is needed to elucidate the genetic basis of this rare oral phenotype.
