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Dentinogenesis imperfecta: Development of treatment strategies over 40 years

From Volume 47, Issue 11, December 2020 | Pages 928-933

Authors

Claire Forbes-Haley

BDS, MJDF RCS, FGDP UK, FDS Res Dent RCS

Consultant in Restorative Dentistry, School of Oral and Dental Sciences, Bristol Dental Hospital, Lower Maudlin Street, Bristol BS1 2LY, UK

Articles by Claire Forbes-Haley

S Nandra

Dental Core Trainee, Restorative and Paediatric Dentistry

Articles by S Nandra

Surina Bhola

BDS(Hons), MFDS RCPSG, PgCert(DentEd)

Dental Core Trainee in Restorative Dentistry, Bristol Dental Hospital, Lower Maudlin Street, Bristol BS1 2LY, UK

Articles by Surina Bhola

A Najran

Dental Core Trainee, Restorative and Paediatric Dentistry, Bristol Dental Hospital, Lower Maudlin Street, BS1 2LY, UK

Articles by A Najran

Abstract

Dentinogenesis Imperfecta (DI) is an inherited autosomal dominant disorder of dentine formation, which affects both primary and permanent dentitions. This paper discusses four cases of DI within one family over three generations and illustrates how increased knowledge of this condition and different severities of the condition are managed differently. This case series represents a family of three generations, the grandmother, her children (son and daughter) and her granddaughter (son's daughter), who all have been affected by DI. This paper summarizes the restorative rehabilitation of each family member, spanning over the last 40 years.

CPD/Clinical Relevance: These generational cases show how dental care has progressed over time, highlighting the need for early identification of DI. Sharing information and strategies on the management of rare dental conditions will improve patient care and outcomes.

Article

Dentinogenesis imperfecta (DI) is an inherited disorder of dentine formation. Together with dentine dysplasia (DD), they encompass a group of autosomal dominant traits, affecting both primary and permanent dentitions. Teeth affected by these conditions have been described as opalescent, exhibiting a distinctive opalescent-grey-brown discoloration. The enamel of affected teeth may be hypoplastic and can crack away from the dentine.1 The exposure of the underlying defective dentine results in excessive tooth surface loss. Studies show that, by the age of 3 years, primary teeth can be worn to gingival level, with first permanent molars worn to this extent by the age of 6.5 years.2 The principal aim of treatment is to prevent caries and loss of tooth structure, and to maintain space, where required, to allow for further management.

Hereditary opalescent dentine was first used in 1936 to describe defects of dentine that were not associated with systemic disorders.3 The term ‘dentinogenesis imperfecta’ was then coined to describe the dental phenotypes associated with ‘osteogenesis imperfecta’ (OI) in 1939.4 Following these, in 1973, Shields proposed a classification system including three categories of dentinogenesis imperfecta (DI I, II and III) and two of dentine dysplasia (DD I and II); this was the classification used for many years.5 However, many cases reported patients who had clinical signs that spanned multiple types of DD and DI. Therefore, it was decided that clinical signs alone were insufficient to classify DI, and that molecular/genetic analysis was also necessary.

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