Dentinogenesis Imperfecta: Understanding The Rare Genetic Disorder Affecting Dental Health

  • Regina LopesSenior Nursing Assistant, Health and Social Care, The Open University

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Overview

Ever wondered why some people have unusually translucent or discoloured teeth? Dentinogenesis Imperfecta (DI) might be the answer. It is a genetic condition that disrupts the development of dentin, the hard tissue beneath the enamel in our teeth.

This can lead to a range of issues, including teeth that are discoloured with an amber or greyish-brown hue, brittle with weakened tooth structure that are more prone to chipping, breaking and hypomineralized with underdeveloped dentin, leaving the teeth with a porous or misshapen appearance. While DI primarily affects the strength of teeth, it can also cause discomfort and aesthetic concerns. A multidisciplinary approach is needed to treat the teeth affected by DI.

Understanding dentin

Each tooth consists of two main parts: the crown and the root. The enamel is the outermost hard covering of the crown while cementum is the specialised covering of the root. The dentin lies beneath them and forms the bulk of the tooth structure. The hardness of dentin is lower than that of tooth enamel but higher than that of cementum. Dentin is positioned as the middle layer and encircles the tooth's pulp. It’s a calcified tissue consisting of microscopic tubules.

Dentinogenesis imperfecta

Dentinogenesis imperfecta (DI) is a genetic disorder affecting the formation of dentin organic matrix, the dense tissue beneath the enamel of teeth. This localised form of mesodermal dysplasia observed during histodifferentiation corresponds to a congenital hereditary alteration affecting both baby and adult teeth. While genetic factors play a primary role in the development of the condition, any environmental or systemic disturbances that hinder the calcification or metabolism of calcium can lead to abnormal dentin formation.

This condition is characterised by abnormalities in the structure of dentin, leading to irregular tooth development. It results in compromised tooth strength and makes teeth susceptible to fractures and discoloration.1 It is not necessary that patients with DI present in primary dentition will have it in permanent dentition.2

DI is reported to affect 1 in 6000 to 8000 individuals.3 Roberts and Schonr in 1939 were the pioneers in introducing the term Dentinogenesis imperfecta, characterising it as a condition akin to what is observed in Osteogenesis Imperfecta (OI). They used the term to describe the opalescent teeth.4

Types of dentinogenesis imperfecta

In 1973, Shields further classified Dentinogenesis Imperfecta into three distinct types.4

Dentinogenesis imperfecta Type I

It is often associated with osteogenesis imperfecta and results from genetic mutations in collagen type 1 genes, namely COL1A1 and COL1A2. It presents intraorally with amber and translucent teeth with severe attrition. The severity of these features is variable among different teeth. Radiographically, this type manifests as constricted short roots with obliterated pulp due to dentin hypertrophy.

Dentinogenesis imperfecta Type II 

Dentinogenesis imperfecta Type II stems from mutations in genes encoding dentin sialophosphoprotein (DSPP),which includes instructions for synthesising three proteins, dentin sialoprotein(DSP), dentine glycoprotein (DGP), and dentin phosphoprotein (DPP), which are essential for normal dentin formation. It shares clinical similarities with Type I, characterised by bulbous crowns and pronounced constriction at the cementoenamel junction.

But it has no association with osteogenesis imperfecta. In contrast to type I, all the teeth are affected. Some individuals are also affected by hearing loss secondary to attrition and over closure of jaws with subsequent changes in the inner ear.3

Dentinogenesis imperfecta Type III

It is also known as the Brandywine isolate, and was initially observed in the tri-racial population of Maryland and Washington DC. It also occurs due to the mutations in genes encoding dentin sialophosphoprotein (DSPP). It has bell shaped crowns, especially in the adult set of teeth. Radiographically, they are described as "shell teeth" due to the hollow appearance created by large pulp chambers.

Clinical presentation of dentinogenesis imperfecta

Though dentinogenesis imperfecta affects both baby teeth and adult teeth, the former is severely affected.

Clinical features include:

  • Discoloured teeth, often amber, yellow-brown, blue-grey or opalescent
  • Tooth crown in bulbous shape 
  • Tooth wear in the form of abrasion or attrition 
  • Tooth fracture
  • Loss of tooth
  • Reduction in occlusal vertical dimension (OVD) which is secondary to the tooth wear
  • Craniofacial dysgnathia, poor tooth aesthetics, and disorders during chewing, swallowing, speaking and eating due to OVD
  • Periodontal diseases4
  • Pulpal exposure in multiple teeth which may be associated with dental abscess3

Radiographic features of dentinogenesis imperfecta

The radiographic features of teeth affected by dentinogenesis imperfecta are:5

  • Bulbous crowns
  • Narrow and short roots
  • Cervical constriction
  • Small and obliterated root canals
  • Partial (thistle-shaped appearance) or complete pulp obliteration
  • Pulp stones
  • Periapical radiolucency without any pathology (tooth decay)

Management of dentinogenesis imperfecta 

The diagnosis involves a thorough medical history, family history, clinical examination and radiographic analysis. Timely identification and intervention are crucial in the management of DI. The management will vary with the age of the patient and severity of the clinical expression of DI. A multidisciplinary approach including restorative, prosthodontic, and orthodontic treatments is necessary. Frequent and long-term follow-ups are needed to assess the progress of the current treatment and to prevent and intervene the future dental anomalies early.

The objectives of management of DI are:6

  • Preserve vitality, form, size and functionality of the dentition
  • Improve the esthetic appearance in order to prevent psychological problems at an early age
  • Prevent loss of vertical dimension
  • Maintain arch length
  • Avoid interference in the eruption of adult teeth
  • Allow normal growth of the facial bones and temporomandibular joint (TMJ)

Restorative treatment

Glass ionomer cement with fluoride-releasing and chemically attaching materials are recommended for non-stressed occlusal areas of baby teeth. For anterior teeth, a composite restoration (acid etch technique), and bonded veneers may be used. Cast occlusal onlays are used in posterior adult teeth. In case of pulpal exposure, root canal therapy is done to prevent further damage to the tooth structure. If pulp therapy is not successful, the affected teeth are extracted.3,4,6

Prosthodontic intervention

Crowns are used to protect the severely affected teeth and improve the function and aesthetics. Polycarbonate, celluloid strip crowns, indirect resin crowns for anterior teeth and stainless steel crowns for posterior are recommended in primary dentition. Over the remnants of crowns and roots of the primary dentition, an acrylic overlay denture can be used. In severe cases where tooth loss is inevitable, dentures or dental implants can be considered.3,4,6

Orthodontic treatment

Space maintainers are used to maintain arch length and allow proper eruption of adult teeth avoiding the need for future orthodontic treatment. It also maintains the vertical dimension and masticatory functions. In case of malocclusion, orthodontic appliances like braces may be recommended to improve the alignment of the teeth.3

FAQs

What is dentinogenesis imperfecta?

Dentinogenesis imperfecta is an inherited disorder of dentine formation affecting both baby and adult sets of teeth. 

How common is dentinogenesis imperfecta?

Dentinogenesis imperfecta is quite common affecting 1 in 6000 to 8000 individuals.

How do teeth affected by dentinogenesis imperfecta appear?

Teeth affected by Dentinogenesis imperfecta have bulbous crowns in grey-blue, amber, and opalescent appearance. Most of the teeth have enamel wear, and exposed dentin.

How is dentinogenesis imperfecta treated?

Dentinogenesis imperfecta often requires a multidisciplinary approach involving restorative, prosthodontic, and orthodontic treatments by a paediatric dentist in collaboration with other dental specialists.

Summary 

In conclusion, Dentinogenesis Imperfecta (DI) presents unique challenges in dental practice due to its genetic nature and complex manifestations. By understanding the underlying mechanisms of DI and employing a comprehensive approach to care, dental professionals can better meet the needs of individuals affected by this condition, ultimately enhancing oral health and quality of life. Continued research and collaboration in the field are essential to furthering our understanding and refining treatment modalities for DI.

References

  1. Kato S. Dentinogenesis Imperfecta: Causes, Symptoms, and Management. Journal of Odontology [Internet]. 2023 [cited 2024 Apr 17]; 7(4):1–2. Available from: https://www.longdom.org/open-access/dentinogenesis-imperfecta-causes-symptoms-and-management-102292.html.
  2. Tsoukala E, Chochtoula G, Theodorou I, Lambrou GI. Dentinogenesis imperfecta: An update. JRPMS [Internet]. 2022 [cited 2024 Apr 18]; 06(01):9–13. Available from: http://www.jrpms.eu/Article.php?AID=jrpms_v06i01_009.
  3. Barron MJ, McDonnell ST, MacKie I, Dixon MJ. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet Journal of Rare Diseases [Internet]. 2008 [cited 2024 Apr 17]; 3(1):31. Available from: https://doi.org/10.1186/1750-1172-3-31.
  4. Kaur R, Karadwal A, Sharma D, Sandhu MK. Dentinogenesis imperfecta type II: Diagnosis, functional and esthetic rehabilitation in mixed dentition. Journal of Oral and Maxillofacial Pathology [Internet]. 2021 [cited 2024 Apr 17]; 25(Suppl 1):S76. Available from: https://journals.lww.com/jpat/Fulltext/2021/25001/Dentinogenesis_imperfecta_type_II__Diagnosis,.18.aspx.
  5. De La Dure-Molla M, Philippe Fournier B, Berdal A. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. Eur J Hum Genet [Internet]. 2015 [cited 2024 Apr 18]; 23(4):445–51. Available from: https://www.nature.com/articles/ejhg2014159.
  6. Shapira J. Dentinogenesis imperfecta: an early treatment strategy [Internet]. 2001 [cited 2024 Apr 18]. Available from: https://www.academia.edu/68086685/Dentinogenesis_imperfecta_an_early_treatment_strategy.

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Nirainila Antony Joseph

Bachelor of Dental Surgery (BDS), Tamil Nadu Government Dental College and Hospital, India

Master of Science (MS), Institute of Oral Medicine, National Cheng Kung University, Taiwan

Dr. Nirainila is a general dentist with extensive experience in comprehensive dental care and patient education. She is also a dedicated researcher focusing on dental aerosols, investigating their implications and control strategies within dental settings. Alongside her clinical and research endeavors, she is a medical content writer who simplifies complex medical information into reader-friendly articles, making health education accessible to a broader audience.

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