Developmental Disorders
Dentinogenesis Imperfecta
aka DI · Hereditary Opalescent Dentin · Capdepont Teeth
Autosomal dominant disorder of dentin causing opalescent, amber-discoloured teeth prone to fracture.
Inheritance
Autosomal dominant
Gene
DSPP (Types II/III)
Radiograph
Obliterated pulp, short roots
§ overviewOverview
Heritable dentin defect due to DSPP gene mutation affecting both dentitions.
§ icdICD Classification
K00.5
§ etiologyEtiology
- 01Mutation in DSPP gene (chromosome 4q21)
- 02Autosomal dominant
§ epidemiologyEpidemiology
1:6,000 to 1:8,000 live births.
§ pathogenesisPathogenesis
Defective dentin sialophosphoprotein → disorganised collagen matrix and poor mineralisation → weak dentin.
§ clinicalClinical Features
- 01Opalescent blue-grey or amber teeth
- 02Bulbous crowns, cervical constriction
- 03Rapid attrition with flat occlusal surfaces
- 04Primary teeth more affected than permanent
§ differentialDifferential Diagnosis
- 01Amelogenesis imperfecta
- 02Dentin dysplasia
- 03Tetracycline staining
- 04Regional odontodysplasia
§ histopathHistopathology
- 01Irregular, disorganised dentinal tubules
- 02Abnormal predentin layer
§ radiographicRadiographic Features
- 01Obliterated pulp chambers and root canals
- 02Short, constricted roots
- 03Periapical radiolucencies (asymptomatic)
§ investigationsInvestigations
- 01Clinical + radiographic
- 02Family history
- 03Genetic testing
§ classificationClassification
- 01Type I — associated with osteogenesis imperfecta
- 02Type II — isolated (Shields type II)
- 03Type III — Brandywine isolate (shell teeth)
§ treatmentTreatment
- 01Stainless steel crowns (deciduous)
- 02Full-coverage restorations
- 03Overdentures
- 04Implants after growth
§ complicationsComplications
- 01Severe attrition
- 02Spontaneous pulp exposure
- 03Periapical pathology
§ prognosisPrognosis
Good with early intervention; lifelong restorative needs.
§ examKey Examination Points
- 01Type I always with OI; Types II/III without OI
- 02Pulp obliteration on radiograph is key
- 03Enamel chips away due to poor DEJ support
§ revisionQuick Revision Summary
- 01DSPP mutation
- 02Bulbous crown, cervical constriction
- 03Obliterated pulp on OPG
§ vivaBDS Viva Questions
- 01What is the genetic basis of DI?
- 02How does DI differ from DD?
- 03Describe radiographic features of DI.
§ mcqsMCQs — Assessment (3)
Question 1
Which gene is mutated in isolated DI?
Question 2
DI Type I is associated with:
Question 3
Radiographic hallmark of DI:
References
- Shields ED. Birth Defects 1973;9:107
- Neville BW. Oral & Maxillofacial Pathology, 4e
Draft — pending faculty review. Educational use only; verify against current guidelines and primary sources before clinical application.