amelogenesis imperfecta / dental courses

INDIAN DENTAL ACADEMY
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 Term used to describe inherited defects of tooth enamel
 Hereditary condition that affects the quality and quantity
of dental enamel
 May affect all or some teeth in deciduous and / or
permanent dentition

Amelogenesis imperfecta (AI) represents a group of
developmental conditions, genomic in origin, which affect
the structure and clinical appearance of enamel of all or
nearly all the teeth in a more or less equal manner, and
which may be associated with morphologic or
biochemical changes elsewhere in the body.
[Crawford et al (2007). Amelogenesis Imperfecta. Orphanet Journal of Rare Diseases. 2:17]

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 Autosomal dominant
 Autosomal recessive
 X - Linked
 Sporadic

 Estimated to range from 1:718 to 1:14,000
[Shafer 5th ed. Developmental disturbances of Oral & Paraoral Structures pg. 67]

 To date mutations in the following four genes have been
reported to cause AI.
 AMELX (Xp22.3 – p22.1) – X linked
 ENAM (4q21) – Autosomal dominant
 KLK4 (19q13.3 – 13.4) – Autosomal recessive
 MMP20 (11q22.3 – q23) – Autosomal recessive
[Crawford et al (2007). Amelogenesis Imperfecta. Orphanet J Rare Dis 2:17]

 3 Types of clinical appearance
 Hypoplastic
 Hypocalcification
 Hypomaturation
Further classified by Witkop into 15 subtypes depending
on phenotype and secondarily by mode of inheritance.

 Unerupted teeth
 Anterior open bite
 Pulpal calcifications
 Taurodontism
 Interradicular dentinal
dysplasia
 Root and crown resorption
[Hunter L et al (2007). Is Amelogenesis Imperfecta an indication for renal examination. Int J
Pead Dent 17:62-65] www.indiandentalacademy.com

 Cone - Rod dystrophy
 Trico - Osseo - Dental Syndrome
 Kohlschutter syndrome
 Nephrocalcinosis
[Elizabeth J et al (2007). Amelogenesis Imperfecta with Renal disease - a report of 2 cases.
JOral Pathol Med 36:625-8.]

 3 family members, 2 brothers and 1 sister.

 20 year old male
 Chief complaint of
discoloured teeth since
childhood
 Similar looking milk
teeth

 Past Medical History : Undergone an operation for Renal
stones 5 years back
 Family history :
 Non Consanguineous
 Father had similar type of teeth and had died due to Cancer
 Elder brother (22 yrs) and elder sister (24yrs) have similar
type of teeth

46 yrs
Died at
age 35
22 yrs
5yrs
24 yrs
27 yrs
20 yrs

 Generalized yellowish –
brown discoloration
 Thin enamel with rough
surface
 Open anterior contacts
 Semilunar shaped
maxillary right central
incisor edge

 Mesially rotated canines
 Open posterior contacts

 Attrision over occlusal
surfaces
 Carious lesion over 16
with tenderness on
percussion

 Reduced density of enamel
 Attrited incisal and occlusal surfaces
 Deformed crowns of maxillary
laterals and canines
 Multiple radiolucent lesions over the
crowns of molars
 Periapical rarefaction in maxillary
right first molar
 Developing third molars

 Altered shapes and open contacts
 Reduced enamel density
 Attrited incisal and occulsal surfaces
 Periapical radiolucency in
maxillary right 6
 Bulbous apical third of maxillary
left 5 suggestive of hypercementosis

 Altered shapes
 Reduced enamel density
 Attrited incisal and occulsal surfaces
 Coronal radiolucencies over
proximal surfaces

 Normal renal function tests

Hypoplastic rough Amelogenesis Imperfecta with
Autosomal dominant pattern.

 RCT in maxillary right 6
 Ceramic crowns over anterior teeth and premolars
 Metal crowns over molars

 22 year old male
 Elder brother of Case 1
patient
 Similar Chief complaint
 Similar Family History
 Had undergone operation
for renal stones before
about 3 years

 Generalized yellowish -
brown discoloration with
thin rough enamel
 Generalized attrision
 Altered morphology of
teeth with semilunar
maxillary left central
incisor edge

 Altered occlusal surfaces
of molars
 Open contacts between
posterior teeth

 Normal Renal Function Tests

Hypoplastic rough AI with autosomal dominant pattern.

• 24 year old female
• Elder sister of Case 1 & 2
patient
• Similar Chief complaint
• Similar Family History
• H/O Renal pain and
Urinary tract infections
before 6 months www.indiandentalacademy.com

 Generalized yellow
brown discoloration with
thin enamel
 Rough pitted surfaces
 Missing third molars and
mandibular laterals
 Overretained right
deciduous mandbular
canine

 Open anterior and
posterior contacts
 Attrited incisal and
occlusal surfaces
 Groosly carious 15, 16,
25, 26

RL
 Missing third molars and
mandibular laterals
 Overretained mandibular left
deciduous canine
 Reduced density of enamel
 Attrited incisal and occlusal surfaces
with altered shapes of crowns
 Carious lesions in 15, 16, 25, 26,
36,37, 46
 Periapical radiolucencies in 36, 46

 Renal ultrasound
 Renal function tests

Hypoplastic pitted Amelogenesis Imperfecta with
Autosomal Dominant pattern.

 Mac Gibbon in 1972 described the first sibling pair
associated with this syndrome in a non consanguineous
family.
 One sibling died at the age of 26 due to severe renal
failure as a complication of Nephrocalcinosis
 Other developed multiple urinary infections, hypertension
and renal faliure.
[Mac Gibbon D (1972). Generalized enamel hypoplasia and renal dysfunction. Aust Dent J
17:61-63]

 The second case was described by Lubinsky et al in 1985
in two siblings with consanguineous parents.
 Both had hypoplastic enamel, nephrocalcinosis and
delayed eruption of permanent teeth.
[Lubinsky M et al (1985). Syndrome of Amelogenesis Imperfecta, nephrocalcinosis, impaired
renal concentration, and possible abnormality of calcium metabolism. Am J Med Genet. 20:233-
43]

 Emma L Dellow et al (1998) described a case of AI
associated with nephrocalcinosis and hypocalciuria in a
consanguineous family.
Dellow E L et al (1998). AI and nephrocalcinosis syndrome in two siblings from a large family
with consanguineous parents. Nephrol Dial Transplant. 13:3193-3196.

 L M Paula et al (2005) described a case of AI in a
consanguineous family which was associated with :
o Over retained deciduous teeth
o Delayed eruption of permanent teeth
o Multiple enlarged pericoronal follicles in unerupted teeth
o Generalised intrapulpal calcifications
o Association with Nephrocalcinosis
[Paula L M et al (2005). Case report of a rare syndrome associating amelogenesis imperfecta
and nephrocalcinosis in a consanguineous family. Archives of Oral Biology 50: 237-242]

 Xue Jun Fu et al (2006) described a case of AI with
nephrocalcinosis associated with hypokalemic metabolic
alkalosis and impaired renal concentration.
[Xue Jun Fu et al (2006). Enamel-renal syndrome associated with hypokalemic metabolic
alkalosis and impaired renal concentration: a novel syndrome? Nephrol Dial Transplant (2006)
21: 2959–2962]

 Lindsa Hunter et al (2007) described a case of hypoplastic
AI with delayed / failure of eruption of the permanent
teeth and associated with renal calcification.
[Hunter L et al (2007). Is AI an indication for Renal Examination. Int J Pead Dent. 17:62-65]

 Elizabeth J et al (2007) described two cases of AI
associated with Nephrocalcinosis.
Elizabeth J et al (2007). Amelogenesis Imperfecta with renal disease. J Oral Path Med 36:
625-628.

 Genes expressed in teeth and kindneys :
 TNS-ALP : tissue non specific phosphatase alkaline
 CaSR : Calcium sensing receptor
 Calbindin 28 kDa
 Area of further research
[Paula L M et al (2005). Case report of a rare syndrome associating amelogenesis
imperfecta and nephrocalcinosis in a consanguineous family. Archives of Oral Biology
50: 237-242] www.indiandentalacademy.com

 Unrecognized and untreated nephrocalcinosis is associated
with significant morbidity.
We as an Oral Physician, should be aware of the
possible association of Amelogenesis Imperfecta with
renal calcification, should advice for proper Invistigations
and refer the affected patient appropriately if such
association is found.

1. Christodoulou J.(1998) A syndrome of Epilepsy, Dementia and AI : genetic and
clinical features. J of Med Genetics 25:827-830.
2. Crawford et al (2007). Amelogenesis Imperfecta. Orphanet Journal of Rare
Diseases. 2:17
3. Dellow E L et al (1998). AI and nephrocalcinosis syndrome in two siblings from a
large family with consanguineous parents. Nephrol Dial Transplant. 13:3193-3196
4. Elizabeth J et al (2007). Amelogenesis Imperfecta with renal disease - a report of
two cases. J Oral Path Med 36:625-8.
5. Hall R. K. et al. (1995) Amelogenesis Imperfecta and Nephrocalcinosis
Syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod.. 79:585-92.
6. Hunter L et al (2007). Is AI an indication for Renal Examination. Int J Pead Dent.
17:62-65
7. Lubinsky M et al (1985). Syndrome of Amelogenesis Imperfecta,
nephrocalcinosis, impaired renal concentration, and possible abnormality of
calcium metabolism. Am J Med Genet. 20:233-43

8. Mac Gibbon D (1972). Generalized enamel hypoplasia and renal dysfunction. Aust
Dent J 17:
9. Paula L M et al (2005). Case report of a rare syndrome associating amelogenesis
imperfecta and nephrocalcinosis in a consanguineous family. Archives of Oral
Biology 50: 237-242
10. Shafer 5th ed. Developmental disturbances of Oral & Paraoral Structures pg. 67
11. Xue Jun Fu et al (2006). Enamel-renal syndrome associated with hypokalemic
metabolic alkalosis and impaired renal concentration: a novel syndrome? Nephrol
Dial Transplant (2006) 21: 2959–2962

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