Document Detail

Enamel dysplasia with hamartomatous atypical follicular hyperplasia (EDHFH) syndrome: suggested pathogenic mechanisms.
MedLine Citation:
PMID:  18561809     Owner:  NLM     Status:  MEDLINE    
The syndrome of enamel dysplasia with hamartomatous atypical follicular hyperplasia (EDHFH) is an unusual syndrome and is unique to black South Africans. Major criteria for the syndrome are enamel dysplasia with generalized amelogenesis imperfecta-like features and atypical hyperplastic dental follicles with microscopic features of central odontogenic fibroma WHO-type (follicle analogue) attached to the crowns of multiple impacted teeth. Minor features of some cases are anterior open-bite malocclusion, supernumerary teeth, pulpal calcification, aberrant roots with hypercementosis, and hypodontia. The pathogenic mechanisms that lead to the development of EDHFH are unknown. We speculate that faulty synthesis of enamel matrix proteins may interfere with enamel formation and play a role in the generalized enamel hypoplasia described in this syndrome. Alterations in inductive signalling by the odontogenic epithelium mediated by enamel matrix proteins may explain the development of the follicle analogues, the root hypercementosis and the presence of dysplastic cementum deposition juxtaposed to odontogenic epithelium in the gingival overgrowth. Thus, alterations in the function of enamel matrix protein function, may be the common denominator responsible for the development of the EDHFH phenotype.
L Feller; B Kramer; E J Raubenheimer; J Lemmer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  SADJ : journal of the South African Dental Association = tydskrif van die Suid-Afrikaanse Tandheelkundige Vereniging     Volume:  63     ISSN:  1029-4864     ISO Abbreviation:  SADJ     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-06-19     Completed Date:  2008-08-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9812497     Medline TA:  SADJ     Country:  South Africa    
Other Details:
Languages:  eng     Pagination:  102-5     Citation Subset:  D    
Department of Periodontology and Oral Medicine, School of Dentistry, University of Limpopo, Medunsa Campus, South Africa.
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MeSH Terms
Ameloblasts / metabolism
Dental Enamel Hypoplasia / etiology*
Dental Enamel Proteins / biosynthesis*,  physiology
Dental Pulp Calcification / etiology
Dental Sac / pathology*
Epithelial Cells / metabolism
Hamartoma / etiology*
Hypercementosis / etiology
Signal Transduction
South Africa
Tooth, Impacted / etiology*
Reg. No./Substance:
0/Dental Enamel Proteins

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