Amelogenesis

Imperfecta
Also known as
Hereditary enamel dysplasia

-By Nupur Dalmia

Etiology

The is unknown. But, This condition is believed

to be X-linked, Autosomal Recessive or Autosomal Dominant,
it is an ectodermal condition; mesodermal layer is not effected
by this at all.
Introduction
This a hereditary(her-edi-tory) condition which has no
regards what so ever with the systemic condition. Tooth
enamel is effected from this condition.
This cause teeth to be really small, discolored, pitted or
grooved, prone to fracture.
Enamel has a protein name, amelotin, which promotes the
hydroxyapatite mineralization in enamel; as name suggests
the formation of amelotin is troubled or imperfect in this
condition. In amelogenesis imperfecta tooth enamel never
matures properly.
. Its prevalence varies from 1:700 to 1:14,000.
 Hydroxyapetite structure is the
base unit of the enamel. This
forms a 96 % inorganic part of
enamel. The formation of this
tough and highly organized
structure is controlled by many
proteins (such as enamelin,
amelogin, ameloblastin); which
are controlled by many genes,
any defect/mutation in these
genes can cause a wave of
irregular hydroxyepitite matrix
formation.
Amelogensis Imperfecta might
be acquired in a X-connected
way or as an autosomal
overwhelming or passive
attribute. None the less, there
are situations where the
determination of AI stays
conditional in evidently
sporadic instances of finish
imperfections. Eventually, it is
foreseen that atomic hereditary
devices will permit more exact
analysis
Autosomal Dominant Inheritance:
Male to male transmission have been reported.
On average, half of the offspring of an affected
individual.

Autosomal Recessive Inheritance

Unaffected parents have affected children.
More likely to occur when parents are related.

X-linked recessive inheritance

It does not have male to male transmission
All daughters of affected male would be affected.
Half of the son born from affected female would be
affected.
Affected males have more severe manifestations than
female.
Classification
Witkop classification
Type 1 : Hypoplastic, most common(60-73%)
Type IA. Hypoplastic, pitted autosomal dominant
Type IB. Hypoplastic, local autosomal dominant
Type IC. Hypoplastic, local autosomal recessive
Type ID. Hypoplastic, smooth autosomal dominant
Type IE. Hypoplastic, smooth X-linked dominant
Type IE. Hypoplastic, smooth X-linked recessive
Type IF. Hypoplastic, rough autosomal dominant
Type IG. Enamel agenesis, autosomal recessive
Type 2 : Hypomaturation

Type IIA. Hypomaturation, pigmented autosomal recessive

Type IIB. Hypomaturation, X-linked recessive

Type IID. Hypomaturation, snow-capped teeth,

Type3: Autosomal

Type IIIA. Autosomal dominant

Type IIIB. Autosomal recessive

Type 4. maturation with taurodontism

Type IVA. Hypomaturation-hypoplastic with taurodontism,

autosomal dominant

Type IVB. Hypoplastic-hypomaturation with taurodontism,

autosomal dominant
 Hypoplastic
Thin enamel, flat occlusal surfaces with or without grooves
and pitting.
Rough or smooth glossy, square shaped crown. Lack of
contact between adjacent teeth
Loss of functional cusp enamel, but cervical enamel
mineralized better comparatively.
Orange or yellow brown discoloration during the time eruption
which become black or brown during time.
Autosomal recessive which is more severe.
Defect in enamel matrix formation
Radiographic features-thin radiopaque layer of enamel with
normal density
Hypocalcified

Normal size and shape of crown.

Soft enamel which can be scraped off by prophylaxis
instruments and probing.
Pigmented dark brown color.
Defects of matrix structure and mineralization is seen
Radiographic features- thickness of enamel is normal but
radio density of enamel is less than that of dentin
Hypomaturation form

Normal thickness but softer than normal but harder than

hypocalcified, may chip away from the crown.
Molted colored cloudy white/yellow/brown/snow capped
appearance.
Alteration in enamel rod and rod sheath structures
Radiodensity of enamel is similar to that of dentin
Hypoplastichypomaturation
with taurodontism

The enamel is thin

Mottled yellow to brown and pitted
Molar teeth exhibit taurodontium and other teeth have enlarged
pulp.
Differential Diagnosis
It looks like fluorosis
Dentinogenesis Imperfecta
Gunthers Disease
Tetracycline hypoplasia or discoloration
Management
Idiopathic
Full crown
Veeners
Gingival health management where cervical enamel is
wearing off and causing plaque accumulation
 Reference

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783800/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1853073/

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1678-
77572005000300002

http://www.oralhealthgroup.com/features/functional-and-esthetic-
rehabilitation-of-amelogenesis-imperfecta-a-case-report/