Prosthetic Rehabilitation of a Patient with

Rare and Severe Enamel Renal Syndrome

Cedric Mauprivez, DDS, PhD1,2/Jean-Francois Nguyen, DDS, PhD3/
Muriel de la Dure-Molla, DDS, PhD4/Adrien Naveau, DDS, PhD2,5

Dental rehabilitation of acute cases of enamel renal syndrome is challenging due to the absence
of clinical reports. In the present case history report, examination of an 18-year-old patient
revealed a complete lack of permanent teeth, as well as irregular and swollen bone and gingival
morphology. Radiographs showed multiple impacted teeth in both arches. Creating a 1.5- to 2-cm
interarch space was necessary for setting complete dentures. The ideal occlusal plane was chosen
by combining two techniques (cephalometric radiograph and modification of the mandibular
occlusal rim according to anatomical guidelines). Extraction of impacted teeth and recontouring
of the alveolar process were performed simultaneously. The mandibular denture was connected
through Locator abutments to two symphyseal implants. This pioneering clinical report will provide
guidance to practitioners in the surgical intervention of patients with FAM20A (family with sequence
similarities 20 A) gene mutations. Int J Prosthodont 2018;31:31–34. doi: 10.11607/ijp.5322

T he FAM20A (family with sequence similarities 20

A) gene was recently described as an enhancer of
matrix protein phosphorylation within the secretory
Case Report

An 18-year-old male patient was referred in 2014

pathway.1 FAM20A dysfunctions lead to a unique syn-
drome recognized either as enamel renal syndrome
(ERS; Mendelian Inheritance in Man [MIM] #204690)
or amelogenesis imperfecta with gingival fibromatosis
(MIM #614253).2 Associated oral symptoms include
severe hypoplastic amelogenesis imperfecta affecting
both dentitions, impaired tooth eruption, pulp stones,
and gingival overgrowth, in addition to nephrocalci-
nosis. Dental rehabilitation of acute cases is challeng-
ing given the reduced prosthetic space and absence
of clinical reports for guidance.
1Doctor, Oral Surgery Department, Dental Faculty of Paris Diderot
University, Sorbonne Paris Cité, Paris, France.
2Researcher, National Institute for Health and Medical Research,
for oral rehabilitation at the Referral Center for Rare
Buccal and Facial Malformations (CRMR MAFACE,
Paris, France) and diagnosed with severe ERS.
Extraoral examination showed satisfactory vertical
height of the resting lower face (Fig 1). Intraoral ex-
amination revealed absence of the dentition in both
arches, as well as irregular and swollen bone and gin-
gival morphology. Radiographs showed the presence
of multiple impacted teeth in both arches, including
the maxillary sinus area and the mandibular inferior
border. Diagnostic casts were mounted on a semi-
adjustable articulator with the mandibular occlusal
rim in centric relation at a satisfactory vertical dimen-
sion. A 1.5- to 2-cm interarch space was necessary for
setting up teeth for making complete dentures.

Molecular Oral Pathophysiology Team, University Paris-Diderot,

Sorbonne Paris-Cité, France.
Treatment
3Associate Professor, Prosthodontics Department, Dental Faculty of

Paris Diderot University, Sorbonne Paris Cité, Paris, France; Paris
Sciences et Lettres Research University, Chimie ParisTech—CNRS,
Institut de Recherche de Chimie Paris, Paris, France.
4Doctor, Referral Center for Rare Buccal and Facial Malformations,
Rothschild Hospital, Public Assistance—Paris Hospitals, Paris, France;
National Institute for Health and Medical Research, Molecular and
Physiopathological Bases of Osteochondrodysplasias, Imagine Institute,
Paris, France.
5Associate Professor, Prosthodontics Department, Dental Faculty of
Paris Descartes University, Sorbonne Paris Cité, Montrouge, France.
Correspondence to: Dr Adrien Naveau, Service d’Odontologie,
Hôpital Albert Chenevier, 40 Avenue de Mesly, Créteil 94010, France.
Fax: +33(1) 49 81 31 46. Email: adrien.naveau@laposte.net
©2018 by Quintessence Publishing Co Inc.
The determined occlusal plane was established by
combining two techniques (Fig 2). The first technique
was performed using a cephalometric radiograph.
The interincisal point was represented by a lead ball
inserted in a wax rim, and a mandibular barycentric
point (ie, the arithmetic mean position of all the points
in the ramus) was calculated on the radiograph as a
posterior reference.3 The occlusal plane was trans-
ferred on the maxillary cast (Fig 3). The second tech-
nique consisted of modifying the mandibular occlusal
rim as per specific anatomical guidelines—lip com-
missures, lower lip height in the anterior area under
the lingual maximal convexity, and in the posterior

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Prosthetic Rehabilitation of Enamel Renal Syndrome

a b

c d
Fig 1   Enamel renal syndrome (ERS) patient phenotype. Oral symptoms associated with severe hypoplastic amelogenesis imperfecta include
impaired tooth eruption, pulp stones, and gingival overgrowth. A kidney exam was performed with patient follow-up for nephrocalcinosis status.
(a) Face and (b) profile photographs in occlusion showing averted lips, prognathism, and satisfactory vertical dimension. (c) Intraoral photograph
of the patient’s occlusion. There was no dental eruption, but a gingival hyperplasia was present (the only visible tooth was surgically released by
the present authors for assessing tooth mobility and gingival healing). (d) Panoramic radiograph showing 24 impacted teeth with some pericoronal
radiolucent zones with sclerotic borders. Teeth presented a complete radicular development with severe curvature against the cortical bone. Dental
follicles were large and fused at the mandibular molars. Calcification was also noticed in the alveolar ligament and the dental follicle.

a c
Fig 2  Determining the ideal occlusal plane. (a) The first approximation relied on a cephalometric radiograph to identify the interincisal and
barycentric (ie, the arithmetic mean position of all the points in the ramus) points of the mandible. (b) This plane was marked on the maxillary
cast. Silicone keys were used to record the initial anatomy, and the maxilla cast was modified. (c) The mandibular wax rim was modified to match
anatomical markers and approximated to the altered maxilla. Both the silicone keys and the mandibular wax rim were used to guide the surgery.

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 Mauprivez et al

Fig 3   Surgical and prosthetic treatment. (a) Silicone keys were used
to guide bone sections along the occlusal plane. (b) Microcomputerized
tomography (MCT) of a tooth extracted with the periodontal ligament
and the follicle showed small, mineralized particles. Dental extractions
were facile despite the pericoronal radiopacity of the ligament. CT sec-
tion of the thin ridge of the 33 sites before (c) and after (d) the bone
graft. (e) Panoramic radiograph with the two symphysis implants and
the remaining teeth. (f) Locator abutments before direct attachment to
the prosthesis. (g) Final result of the surgical and prosthetic treatment.
(h) Treatment time frame.

b c d e

f g

Two unloaded Implant New

Complete symphyseal failure and implant Implants
Surgeries dentures implants bone graft placement loading

0 2 4 6 8 10 12 14 16
h Time (mo)

area at the level of the upper third of the retromolar
pad.4 The initial anatomy was recorded on the max-
illary cast with silicone keys, and then the cast was
modified according to the revised occlusal plane.
The maxillary osteotomy was conducted using both
the silicone keys and mandibular wax rim as surgi-
cal guides (Fig 3). Extraction of impacted teeth and
recontouring of the alveolar process were performed
simultaneously. The analysis of the teeth structure
was recently described.5 Mandibular tooth extractions
were carried out with a titanium plate (Ortrautek,
Tekka) used to prevent mandible fracture. Following 8
weeks of healing, the complete denture was fitted (Fig
3). A computerized tomography was used with a ra-
diologic guide for assessing the ideal location for two
symmetric symphyseal implants (Tapered Screw-Vent,
Zimmer Biomet). At 2 months after placement, one os-
seointegration failed, and the implant was removed.

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Prosthetic Rehabilitation of Enamel Renal Syndrome

A bone graft was performed mixing substitute (Bio- Conclusions

Oss, Geistlich Pharma AG) and symphyseal bone, and
a new implant was placed 3 months later. The man-
dibular denture was connected to Locator abutments
6 months later.
Discussion
The first step in rehabilitating the patient was to design
an occlusal plane before the planned surgical inter-
vention. The two techniques used for determining the
occlusal plane have been described for a unimaxillary
complete denture in the context of dental overerup-
tions of the opposite arch.3,4 A fixed prosthodontic
treatment plan was rejected for financial reasons. Two
symphyseal implants to support an overdenture were
therefore proposed and accepted.
The second step involved the surgical removal of
the bone and mucous outgrowth, with no literature
supporting any capacity for bone healing in this rare
condition. Late tooth eruption was considered unlike-
ly, based on CRMR MAFACE follow-up of a number
of clinical cases.2 In the present clinical case, arch
bone and gingival deformities secondary to impact-
ed teeth interfered with the prosthetic project and
compromised the mechanical resistance of the bone.
Despite the significant surgery required, bone and
gingival healing appeared normal. The lost implant is
suspected to have failed due to the thinness of the
alveolar ridge. Based on successful osseointegration
of one implant, the team decided to perform a bone
graft for the second implant, which was successful.
The patient’s future maintenance is likely to parallel
what is encountered in similar treatment plan out-
comes for individuals without this condition.
While acknowledging the inherent limitations of any
one particular case history report, it appears that the
present management of a severe case of ERS demon-
strates that scrupulously selected and applied dental
treatment interventions (eg, extractions, osteotomy,
implantation, bone graft) can provide a satisfactory
outcome. It is hoped that this clinical case history
report provides guidance in the surgical treatment
planning and management of patients suffering from
FAM20A gene mutations.
Acknowledgments
The team wishes to thank Zimmer Dental (Rungis, France) for offer-
ing the two dental implants, Prof Ariane Berdal (DDS, PhD) for her
expertise and guidance, Dr Rufino Felizardo (MD) for the imaging
exams, Dr Anne-Laure Favre (DDS) for the cephalometric analysis,
and Dr Christopher Herold (PhD) for the grammatical review. The
authors report no conflicts of interest.
References
  1. Cui J, Xiao J, Tagliabracci VS, Wen J, Rahdar M, Dixon JE. A
secretory kinase complex regulates extracellular protein phos-
phorylation. Elife 2015;4:e06120.
 2. de la Dure-Molla M, Quentric M, Yamaguti PM, et al. Patho-
gnomonic oral profile of Enamel Renal Syndrome (ERS) caused
by recessive FAM20A mutations. Orphanet J Rare Dis 2014;9:84.
 3. Ricketts RM. A principle of arcial growth of the mandible.
Angle Orthod 1972;42:368–386.
 4. Zarb GA, Hobkirk J, Eckert S, Jacob R (eds). Prosthodontic
Treatment for Edentulous Patients: Complete Dentures and
Implant-Supported Prostheses, ed 13. St Louis, MO: Mosby, 2013.
 5. Lignon G, Beres F, Quentric M, et al. Fam20A gene mutation:
Amelogensis or ectopic mineralization? Front Physiol 2017;8:267.

Literature Abstract

Intake of Proton Pump Inhibitors is Associated with an Increased Risk of Dental Implant Failure

The aim of this retrospective cohort study was to investigate the association between intake of proton pump inhibitors (PPIs) and risk
of dental implant failure. Patients in this study were consecutively treated between 1980 and 2014 with implant-supported/retained
prostheses at one specialist clinic. Modern endosseous dental implants with cylindrical or conical design were included, and only complete
cases were considered; ie, only those implants with information available for all variables measured were included in the regression model
analysis. Zygomatic implants and implants detected in radiographies but lacking basic information in the patients’ files were excluded
from the study. Implant- and patient-related data were collected. Multilevel mixed-effects parametric survival analysis was used to test
the association between PPI exposure (predictor variable) and risk of implant failure (outcome variable), adjusting for several potential
confounders. A total of 3,559 implants were placed in 999 patients, with 178 implants reported as failures. The implant failure rates were
12.0% (30/250) for PPI users and 4.5% (148/3,309) for nonusers. A total of 45 out of 178 (25.3%) failed implants were lost up to abutment
connection (6 in PPI users, 39 in nonusers), with an early-to-late failure ratio of 0.34:1. PPI intake was shown to have a statistically
significant negative effect for implant survival rate (hazard ratio 2.811; 95% CI: 1.139 to 6.937; P = .025). Bruxism, smoking, implant length,
prophylactic antibiotic regimen, and implant location were also identified as factors with a statistically significant effect on implant survival
rate. This study suggests that the intake of PPIs may be associated with an increased risk of dental implant failure.

Chrcanovic BR, Kisch J, Albrektsson T, Wennerberg A. Int J Oral Maxillofac Implants 2017;32:1097–1102. References: 23. Reprints: Bruno
Chrcanovic, Bruno.chrcanovic@mah.se —Steven Sadowsky, USA

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