Toupenay et al.

BMC Oral Health (2018) 18:108

https://doi.org/10.1186/s12903-018-0554-y

CASE REPORT Open Access

Amelogenesis imperfecta: therapeutic

strategy from primary to permanent
dentition across case reports
Steve Toupenay1, Benjamin Philippe Fournier1,2,3,4,5, Marie-Cécile Manière7,8, Chantal Ifi-Naulin1, Ariane Berdal1,2,3,4,5
and Muriel de La Dure– Molla1,4,6,9*

Abstract
Background: Hereditary enamel defect diseases are regrouped under the name “Amelogenesis Imperfecta” (AIH).
Both dentitions are affected. Clinical expression is heterogeneous and varies between patients. Mutations
responsible for this multigene disease may alter various genes and the inheritance can be either autosomal
dominant or recessive, or X-linked. Until now, no therapeutic consensus has emerged for this rare disease.
Case presentation: The purpose of this article was to report treatments of AIH patients from childhood to early
adulthood. Treatment of three patients of 3, 8 16 years old are described. Each therapeutic option was discussed
according to patients’ age and type of enamel alteration. Paediatric crowns and resin based bonding must be
preferred in primary teeth. In permanent teeth, non-invasive or minimally invasive dentistry should be the first
choice in order to follow a therapeutic gradient from the less invasive options to prosthodontic treatments.
Conclusion: Functional and aesthetic issues require patients to be treated; this clinical care should be provided as
early as possible to enable a harmonious growth of the maxillofacial complex and to prevent pain.
Keywords: Amelogenesis imperfecta, Dental care, Operative dentistry, Paediatric dentistry

Background ameloblastin, c4orf26) or enzymatic (kallikrein 4,

Amelogenesis imperfecta is a rare genetic disease affect- MMP20); some others encode for transcription factors
ing enamel. Primary and permanent teeth are concerned (MSX2, DLX3), cellular proteins (WDR72, FAM83H,
with almost the same severity. Differential diagnosis COL17A1), cellular receptor (ITGB6) and calcium car-
must be made with enamel developmental defects rier (SLC24A4) [3]. Until today, no relation between
caused by environmental factors (fluoride, tetracyc- genotype and phenotype has been established. Enamel
line???) [1] or traumatic etiologies as they will only affect may be modified in its width, microstructure or
defined teeth and rarely both dentitions. For example, mineralization degree. Thus, clinical symptomatology
experimental studies showed that molar incisor hypopla- goes from light discoloration to disintegration/break-
sia (MIH), which only affects permanent incisors and down of the enamel of the entire tooth. Witkop’s classifi-
first molars, might be caused by prenatal or early child cation distinguished 4 different types: hypoplastic,
exposure to endocrine disruptors [2]. hypomature, hypomineralized and hypomature with
Amelogenesis imperfecta presents large variability in taurodontism forms, with 14 specific subtypes [4]. In-
its clinical expression. Mutations have been reported in deed we differentiate 3 clinical entities: hypoplastic,
different genes. Some of them encode for enamel pro- hypomature and hypomineralized AI.
teins, either structural (amelogenin, enamelin,
– Hypoplastic AIH (type I) consists of quantitative
* Correspondence: murielmolla@gmail.com
1
alteration of enamel with localized or generalized
Centre de référence des maladies rares orales et dentaires Orares, Hopital
Rothschild, APHP, Paris, France
reduced thickness. Teeth are yellow to light brown,
4
Université Pierre et Marie Curie-Paris, F-75006 Paris, France surface is rough with pits or larger area defects.
Full list of author information is available at the end of the article

© The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Toupenay et al. BMC Oral Health (2018) 18:108 Page 2 of 8

Severe hypoplastic phenotype leads to morphological Surprisingly, no increased incidence of caries has been
anomalies seen on radiographic examinations. No reported.
pain is associated with this AI, although some slight
thermal sensitivity may sometimes be reported [5]. Case presentation
– Hypomature AIH (type II) consists of a defect in Case report 1
matrix protein degradation. In enamel, which is the A three-year-old girl was referred to the Reference
most calcified structure in the organism, proteins Centre of Rare Diseases in Paris. Her medical history
must be degraded and removed to achieve final was noncontributory. According to her mother, she
crystal growth. In type II, enamel appears white or complained with pain while eating, moderate sensitivity
brown, without translucency. Hardness during during tooth brushing and above all poor aesthetic as-
probing and thickness of enamel layer are normal. pect of her teeth. Intraoral examination revealed a
However, enamel breakdown often occurs. On hypoplastic AIH with yellow teeth and rough surfaces
radiographs, enamel opacity is decreased especially (Fig. 1a). Brown extrinsic discoloration was seen in the
near the enamel dentin junction. This type of AIH is hypoplastic area. Enamel was reduced in thickness and
the mildest form and frequently undiagnosed. severely hypoplastic, giving the idea of a false microdontia
Aesthetics is the first cause of consultation [6]. with multiple diastemas. Molars were the most affected
– Hypomineralized AIH (type III) is the most severe teeth showing reduced crown height. In addition, anterior
AI form. Enamel mineral content is reduced causing open bite was noted without thumb sucking. Treatment
pain while masticating, and brushing. Gingivitis and was planned following 3 objectives at this age:
periodontal diseases have been described, with large
amounts of dental calculus. Teeth are very sensitive  Pain prevention and treatment
to temperature and brushing. Enamel is dark yellow  Protection of dental tissue integrity in order to
or brown. On radiographs, enamel and dentin may maintain occlusal function and limit dental biofilm
reach the same radiodensity [7]. Anxiety has often retention
been reported in these patients due to permanent  Restoration of smile aesthetics.
dental pain [8].
On primary molars, the choice of treatment was
Other dental anomalies may be associated with AI [9]: stainless steel crowns (3 M™ ESPE™) because the oc-
taurodontism [10], pulp stones, delayed tooth eruption, clusal morphology was lost (Fig. 1b). This way, verti-
anterior open bite or craniofacial anomaly [11, 12]. cal dimension was slightly increased and maintained.

Fig. 1 4,5-year-old patient affected by hypomineralized AI. Clinical examination revealed pain during brushing and hot and cold sensitivity, open bite
whithout digit sucking. a–c Enamel was yellow to brown, easily chipping, with loss of dental morphology. d, e Oral surgery was realized under local
anesthesia through four visits. Stainless steel pediatric crowns were realized on primary molars, and direct composite restorations were done in
anterior teeth
Toupenay et al. BMC Oral Health (2018) 18:108 Page 3 of 8

The incisors and canines were isolated with a rubber anxious about dental care for this reason. Oral clinical
dam and direct dental composite restorations were exam showed a mixed dentition, with eruption of per-
placed (Herculite, Kerr [13, 14] with ER2 adhesives manent incisors and first molars. Hypomineralized AI
Optibond SL). Teeth were not prepared; we etched was diagnosed (Fig. 2a). Enamel was dark yellow in per-
with 35% Phosphatidic acid for 30 s, rinsed for 30 s manent teeth and brown in primary teeth. Some enamel
with air and water. Then teeth were air dried, adhe- breaks were observed in posterior teeth. A severe open
sive was applied with an applicator tip, excesses were bite was observed, associated with only occlusal con-
removed with air before polymerization for 45 s. Af- tacts on first permanent molars and second primary
fected enamel was not removed but bonding was dir- molars. Maxillary bone showed insufficient transversal
ectly applied to it. As enamel surface appeared rough, growth. Facial and oral functional exams revealed buc-
a flow composite (Tetric Evoflow, Ivoclar) was applied cal breathing and nocturnal snoring explaining the ec-
and served as intermediate material. Its higher fluidity topic maxillary lateral incisor eruption in the vestibular
and wettability would allow penetrating enamel area. The patient was referred to the otorhinolaryngol-
roughness (Fig. 1b). Because tooth morphology of an- ogy department to investigate obstructive sleep apnea
terior teeth was not severely altered, “Odus” molds syndrome. The panoramic radiograph showed a reduc-
were not useful to offer a correct restoration. Com- tion in the enamel thickness as well as a similar X-ray
posite resins were applied in one layer. Finishing and density between hypomineralized AI and dentin
polishing were achieved with abrasive discs (Sof-lex/ (Fig.2c). The patient showed very low self-esteem be-
3 M ESPE). Patient follow-ups were done 6 months cause of her poor appearance. She reported bullying at
and 1 year after treatment. Composite sealing and school and didn’t want to smile.
oral hygiene were controlled. Multidisciplinary treatment objectives taken into
account at this age were:
Case report 2
An 8-year-old patient referred to the Reference Centre – Preservation of tooth integrity and vitality of
of Rare Diseases, Paris. Her medical and familial history permanent teeth emerged in the oral cavity
revealed no etiologic explanation. Her main complaint – Non-invasive rehabilitation that allowed evolution
was extreme sensitivity to hot and cold and she was during growth

Fig. 2 8-year-old patient with hypomineralized AI. a Oral examination revealed brown enamel with severe breakdown in primary teeth. Patient
history shows pain while eating, brushing and also breathing. Aesthetic complaint was high because of laughing at school. b Composite veneers
and complete composite crowns were realised on anterior permanent teeth and posterior primary teeth respectively. c panoramic radiograph
revealed severe reduction of enamel layer
Toupenay et al. BMC Oral Health (2018) 18:108 Page 4 of 8

– Restoration of smile aesthetics Case report 3

– Normalization of oral function (mastication, A 16-year-old girl was referred by an orthodontist to
respiration, swallowing) the Reference Centre of Rare Diseases in Paris.
Orthodontic treatment was performed with classical
Because of the strong aesthetic request, full composite bracket technique in order to close anterior open bite
rehabilitation was decided (Fig. 2b). Master impression (Fig. 3a-b). At the end of the treatment, the patient
of the two arches was recorded with silicone material. requested full mouth rehabilitation. She complained
Hard plaster (Type IV) was used, models were adjusted first of all about aesthetics but she also reported diffi-
to a semi-adjustable articulator using a centric relation culties and painful chewing. Intraoral examination re-
record. Rehabilitation of anterior teeth was done first in vealed hypomineralized AI associated with some
order to obtain the patient’s confidence. This was work- hypoplasia. A little open bite remained after ortho-
able because of the absence of anterior occlusion. Indir- dontic treatment. Teeth were small with diastemas
ect resin-based composite (Premise Indirect System, that were not closed as requested by the practitioner.
Kerr) facets were performed on maxillary incisors with- In this occlusal context dental rehabilitation may be
out tooth cavity preparation. A layer of an opaque shade done without teeth reduction. Treatment was dis-
of composite was applied to mask the remaining spot. cussed according to several objectives taking into ac-
Composite resin A3 shade was used cervically, A2 in the count the patient’s age:
core and A1 in the incisal edge. Careful polishing was
made especially at the gingival border with a Touati bur.  Functional restoration
In primary teeth, full composite crowns were still  Aesthetic restoration
build-up in plaster models. The restoration was bonded  Lasting treatment
using dual cured composite resin (Variolink Esthetic,  Minimally invasive treatment
Ivoclar™ Vivadent™). Occlusion was lightly increased to
create enough space for this restorative reconstruction. Master impression of the two arches was recorded
Stainless steel crowns (3 M™ ESPE™) were applied to all with a silicone material and working cast was mounted
first permanent molars without tooth preparation and onto a semi-adjustable articulator using a centric rela-
sealed with glass ionomer cement. Orthopedic treatment tion record. Composite veneers were applied on incisors
followed to treat the maxillary hypoplasia. and composite full crowns on all other teeth (Fig. 3c).

Fig. 3 Hypoplastic amelogenesis imperfecta associated to open bite patient (a): 9 years old was treated by an orthodontic treatment at 13 years
old (b). At the end of the treatment, indirect composite restorations were realized with veneers on anterior teeth and full composite crowns on
premolars (c: 16 years old). Stainless steel crowns had been previously realized on the first permanent molars at the age of 7. View of the patient
5 years later (d)
Toupenay et al. BMC Oral Health (2018) 18:108 Page 5 of 8

Nanohybrid indirect composite (Premise Indirect Sys- Previous studies regarding bonding to AI enamel were
tem, Kerr) was used with dentin and enamel shades contradictory and varied with AI types [18, 19]. Some
mimicking the clinical shade (A3 shade was used cervi- authors suggest complete enamel etching with sodium
cally, A2 in the core and A1 in the incisal edge). Each hypochlorite rinsing (5% during 1 min) in order to re-
layer was polymerised. Rigorous polishing was done in move residual enamel proteins, especially in hypomature
order to obtain shiny surfaces (Tool kit, Kulzer). The forms [20–22]. In vitro studies showed a decrease in
restoration was bonded using dual cured composite bonding strength [23] while some others observed simi-
resin (Variolink Esthetic, Ivoclar™ Vivadent™) taking care lar rupture strength values to healthy enamel ones. This
to separate each proximal contact with metal matrix. latter may be explained by an increase of bonding area
Carefully polishing was made especially at the gingival due to the microporosity of the affected enamel. Bond-
border with a Touati bur. The patient was very satisfied ing on dentin is also different. Indeed, dentin in AI pa-
with the aesthetic appearance. She did not report any tients is more mineralized than usual, looking like
trouble with mastication. She was followed every reactional dentin with obliterated tubuli [24].
6 months. Oral hygiene and integrity of the restoration In mixed dentition, rehabilitation must be done as
were scrupulously monitored. Direct composite was ap- soon as teeth erupt. Treatment main goals should be the
plied 3 years later, on the cervical part of the crown be- preservation of tooth integrity and vitality [25]. Paediat-
cause gingival maturation occurred. She had only ric crowns can be easily performed on first molars with-
difficulty to control calculus deposition on the lingual out tooth preparation, especially indicated when teeth
part of mandibular incisors. Five years later, the restora- are painful or hypoplastic. Orthodontic elastic spacer
tions were still satisfactory (Fig. 3d). was used to separate teeth. In other cases, only prophy-
lactic care may be enough. In hypomineralized forms,
Discussion and conclusion glass ionomer cements on occlusal surfaces were effi-
Guidelines for AI treatment have been established by cient in preventing pain and allowing temporizing until
AAPD (American Academy of Pediatric Dentistry) [15]. teeth eruption was achieved. Clinical follow ups should
Factors such as age, socio-economic conditions, AI type be planned every 6 months if new teeth erupt and every
and severity have to be taken into account in treatment 9–12 months in stable periods. Orthodontic treatment is
planning. Patients’ first appointment usually corre- not contraindicated in AI patients. Brackets’ bonding
sponded to establishment determining the age of pri- can be made with glass ionomer cements. Open bite
mary, mixed and permanent dentitions (that is 4, 8 and prevalence is increased in AI patients. Treatment is
13 year-old, respectively), and the two main demands often long and might need orthognatic surgery. In mild
were pain and aesthetics [16]. These patients suffered AI forms (without any pain or important hypoplasia),
from reduced quality of life, social integration difficulties definitive rehabilitation should be planned only at the
and loss of self-esteem [17]. Oral hygiene and rigorous end of the orthodontic treatment. In other cases, pri-
follow-up are recommended. Hypomineralized enamel mary restoration could be done before orthodontic treat-
showed progress alteration with time because of its soft- ment and reassessed at the end of the treatment.
ness. Composite fillings can limit this degradation. Den- In permanent dentition, different treatments from re-
tal rehabilitation is still important to improve oral health storative to prosthetic rehabilitation have been reported
in children. Rough enamel is associated with dental in the literature [26] (Table 1). Nevertheless, no consen-
plaque retention, increasing gingival inflammation and sus between several case reports has been reached. Be-
pain. Hypomineralized enamel is the most severe form: fore adhesive dentistry and full ceramic material arrival,
once occlusion is established, teeth wear quickly inducing prosthetic treatment with ceramic crowns was done on
large tissue losses. Patients describe eating difficulties and all teeth. This kind of treatment is no longer recom-
pain when temperature changes. Thus, efficient tooth mended today for young adult. Most aesthetic results
brushing cannot be achieved / tooth brushing cannot be were obtained with fixed prosthodontics and all
effective. By contrast, hypoplastic AIs mainly present un- ceramic restorations showed good success rates [27].
sightly teeth complaints, while in hypomineralized type, However, teeth, especially anterior teeth, have to be
local anesthesia is required for dental scaling. devitalized, which decreases their longevity. Veneers
Treatment should begin as soon as possible according were also done on anterior teeth in order to preserve
to patient compliance in office dental care. For very dental tissues [28–32]. Their major disadvantage is
young patients, general anesthesia may be necessary. their cost and the fact that their placement is time
Stainless steel crowns were indicated in primary teeth consuming [30].
with hypoplastic or hypomineralized AI in order to re- Some authors proposed overdenture treatments [33]. In
duce tooth sensitivity and restore enamel loss. Compos- this case, occlusion and aesthetics were restored quickly.
ite restorations were indicated for all primary teeth. This kind of treatment is an option in mixed or
Toupenay et al. BMC Oral Health (2018) 18:108 Page 6 of 8

Table 1 Advantages and disadvantages of the therapeutic alternatives in AI dental treatment

Advantages Inconveniences References
Fixed Prosthodontics Aesthetics Invasive Robinson et al., 2006 [32]
Occlusion Long treatment Gisler et al., 2010 [30]
Mechanical properties Tooth vitality Chan et al., 2011 [28]
Cost Ramos et al., 2011 [31]
Removable Prosthodontics Fast Transitory Zarati et al., 2009 [33]
Occlusion Hygiene
Cost effective Retention issues
Resin Based Composites - Correct aesthetics Mechanical Sockalingam S, 2011 [44]
Direct Restoration Non invasive properties
Cost effective Longevity?
Occlusion
regulation
Resin Based Composites- Minimally Invasive Durability? Manhart J et al., 2000 [45]
Indirect Restoration Aesthetics (stratification, opacity) Wear Koyuturk AE et al., 2013 [46]
Mechanical properties
Easy to repair
Bite set up on simulator
Resin Based Composites- Same as above Same as above Fasbinder DJ, 2006 [47]
Indirect Restoration Possibility to use new polymer Steep Learning Schlichting LH1 et al., 2011 [48]
CAD-CAM infiltrated ceramic network materials curve
single office appointment Occlusion

young permanent dentition in order to wait for Abbreviations

growth end. Still, overdentures should be transitory AAPD: (American Academy of Pediatric Dentistry; AI: Amelogenesis imperfecta

options since long term failures due to retention loss Acknowledgements

are frequent [34]. We thank all the patients and their families for their participation and
Direct or indirect [35–38] dental composites consti- contribution to spreading our expert experiences of this specific dental care.
We thank Miss Françoise Laveille for English reviewing.
tute other treatment options. These materials allow an
aesthetic result with good long term outcomes and min- Funding
imally invasive intervention [39]. Clinical reports showed This paper deals with patient treatment at the Rare Disease Reference Center
in Rothschild Hospital (Paris). There are no conflicts of interest and no
short term follow-ups. Only two articles presented data funding involved. Patients were treated by authors. Patients’ consents were
with a longer follow-up [40]. Nevertheless in AI patients, obtained to publish.
the failure rate seemed to be increased compared to un-
Availability of data and materials
affected patients [41] or to the other dental abnormal-
All data were in the article and available.
ities (for example: oligodontia or palatal clefts [42, 43]).
This may be due to the less shear bond strength re- Authors’ contributions
ported in AI teeth. A consensus protocol on AI enamel ST and MDLD did surgery of patients; MDLD and BPF wrote the manuscript;
MCM, CIN and AB have corrected the text. All authors read and approved
and dentin bonding is still to be decided. the final manuscript.
AI is a rare inherited enamel disease, which explains
the absence of evidence-based clinical recommendation Authors’ information
Patients received all information about their care taking into account the
and makes AI treatment challenging. Aesthetics, pain or latest knowledge in literature.
tooth breakdown were the major patient complaints.
Restorative to prosthodontic dentistry must be done in Ethics approval and consent to participate
Patients have approved surgery according to updated knowledge in
order to maintain oral function and growth preventing pediatric dentistry. As patients were not part of a study but received routine
tooth loss and allowing oral hygiene maintenance. The dental care, Ethics committee assessment was not necessary.
first consultation must be as early as possible. Treatment
Consent for publication
alternatives deal with minimal invasive dentistry with Written consents of all patients, relative to photograph and publication were
the objective of maintaining tooth vitality as long as obtained.
possible. The goal is to achieve therapeutic answer
during the entire patient’s life. In this respect, estab- Competing interests
The authors declare that they have no competing interest.
lishing a good trust relationship between child and
dentist is critical. Genetic and biological knowledge of
Publisher’s Note
AI physiopathology is also helpful in treatment plan Springer Nature remains neutral with regard to jurisdictional claims in
decision. published maps and institutional affiliations.
Toupenay et al. BMC Oral Health (2018) 18:108 Page 7 of 8

Author details 19. Seow WK, Amaratunge A. The effects of acid-etching on enamel from
1
Centre de référence des maladies rares orales et dentaires Orares, Hopital different clinical variants of amelogenesis imperfecta: an SEM study. Pediatr
Rothschild, APHP, Paris, France. 2UFR d’Odontologie, Université Paris-Diderot, Dent. 1998;20:37–42.
F-75006 Paris, France. 3Université Paris-Descartes, F-75006 Paris, France. 20. Saroglu I, Aras S, Oztas D. Effect of deproteinization on composite bond
4
Université Pierre et Marie Curie-Paris, F-75006 Paris, France. 5Centre de strength in hypocalcified amelogenesis imperfecta. Oral Dis. 2006;12:305–8.
Recherche des Cordeliers, INSERM UMRS 1138, Laboratory of Molecular Oral 21. Sonmez IS, Aras S, Tunc ES, Kucukesmen C. Clinical success of deproteinization
Pathophysiology, F-75006 Paris, France. 6INSERM UMR_S1163 Bases in hypocalcified amelogenesis imperfecta. Quintessence Int. 2009;40:113–8.
moléculaires et physiopathologiques des ostéochondrodysplasies, Institut 22. Venezie RD, Vadiakas G, Christensen JR, Wright JT. Enamel pretreatment with
Imagine, Necker, Paris, France. 7Hôpitaux Universitaires de Strasbourg, Pôle sodium hypochlorite to enhance bonding in hypocalcified amelogenesis
de Médecine et Chirurgie Bucco-Dentaires, Centre de Référence des imperfecta: case report and SEM analysis. Pediatr Dent. 1994;16:433–6.
Maladies Rares Orales et Dentaires, CRMR O-Rares, Strasbourg, France. 23. Faria, E.S.A.L., De Moraes, R.R., De Sousa Menezes, M., Capanema, R.R., De
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Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France. Moura, A.S., and Martelli-Junior, H. (2011). Hardness and microshear bond
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Odontology Department, Rothschild Hospital, 5 rue Santerre, 75012 Paris, strength to enamel and dentin of permanent teeth with hypocalcified
France. amelogenesis imperfecta. International journal of paediatric dentistry / the
British Paedodontic Society [and] the International Association of Dentistry
Received: 21 July 2016 Accepted: 22 May 2018 for Children. 2011;21:314–20.
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A. Dentine structure and mineralization in hypocalcified amelogenesis
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