https://doi.org/10.5933/JKAPD.2021.48.2.237 JKoreanAcadPediatrDent48(2)2021ISSN(print)1226-8496ISSN(online)2288-3819

Comparison of Long-term Prognosis in Siblings with Dentinogenesis Imperfecta depending on the Timing of the Treatment Intervention : Case Reports

Gimin Kim, Jaesik Lee

Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University

Dentinogenesisimperfecta(DI)isahereditarydisorderofdentinaldefect.Itisgenerallyinheritedasasingleautosomal

dominant trait. DI usually affects both the primary and permanent dentition. Affected teeth have various types of

discolorations, rapid destruction of the dentin, and severe attrition. In radiologic view, the affected teeth have bulbous

crowns, short roots and narrow or closed pulp chambers. The treatment objective is to prevent additional attrition and

recover the vertical dimension of occlusion.

Theaimofthisreportwastopresentthelong-termprognosisin15yearsinapairofsiblings.Boththepatientshad

DI with tooth attrition and discoloration. Different treatment procedures were used, depending on the difference in the

timingofintervention.Thefirstpatientsavedmostofhisteeth.Thesecondpatienthadallofherteethextracted.This

report could be helpful for early diagnosis and overall treatment of DI.

Key words : Dentinogenesis imperfecta, Long-term prognosis, Rehabilitation

Abstract

237

Corresponding author : Jaesik LeeDepartmentofPediatricDentistry,SchoolofDentistry,KyungpookNationalUniversity,2177,Dalgubeol-daero,Jung-gu,Daegu,41940,RepublicofKoreaTel:+82-53-600-7201/Fax:+82-53-426-6608/E-mail:leejs@knu.ac.krReceivedOctober19,2020/RevisedNovember27,2020/AcceptedNovember24,2020

Ⅰ.Introduction

Dentinogenesis imperfecta (DI) is inheritedasanautoso-

mal dominant trait with high penetrance and a low mutation

rate[1-3].Amutationinthedentinsialophosphoprotein(DSPP)

gene locatedonchromosome4q21.3hasbeenreportedas

acauseofhereditarydentindefect[2,4].Shieldset al .[5]pro-

posedthreetypesofDI.DI type1 isassociatedwithosteo-

genesisimperfecta(OI)[5].DItype2hasessentiallythesame

clinical,radiologicalandhistologicalfeaturesasDItype1but

withoutOI[5].DI type3was firstdiscovered inUSAand is

characterizedby“shellteeth”ofwidepulpcavity,severeattri-

tionanddiscoloration[2,5].

In clinical examination, DI usually affects both the primary

and permanent dentitions, characterized by the disturbed den-

tinformation[5].Theprimarydentitionappearsmoreseverely

affected than thepermanentdentition[6].Thecolorof the

teeth varies from brown to blue and is sometimes described

asgray,withanopalescentsheen[6].Theexposeddentinmay

undergosevereandrapidattrition[6].Severeattritionmaylead

toarapiddecreaseintheverticaldimension[7]. Inradiologic

view, the affected teeth are in the shape of slender roots and

bulbouscrowns;thepulpchambersarenarroworclosed,and

therootcanalisobliteratedandhasaribbonshape[5,8].

In previous studies, various approaches for treating patients

with DI have been introduced. The choice of rehabilitation was

J Korean Acad Pediatr Dent 48(2) 2021

238

basedonthepatient’sageatthetimeofinitialtreatmentand

attritionseverity[9].Inearlyprimarydentition,severeattritions

appeared immediatelyaftertheeruption[7].Protectionofthe

primary molars with stainless-steel crowns was generally nec-

essary[7].Somepatientswereleftuntreateduntiladolescence

oradulthoodandcompletedentureswerefittedwhenallthe

teethwereextracted[10].Becauserootcanaltreatmentofteeth

with DI may cause problems because in most cases the root

canalswerenarroworabsent[10].Theriskofrootperforation

is high, owing to the obliteration of the coronal parts of the

rootcanals[11].Pettietteet al .[12]proposedperformingearly

root canal treatment before severe root canal obliteration oc-

curs.

Intracoronal restorations may be acceptable in mild cases

with lowattrition[7]. Intherestorativetreatmentofpediatric

patients, theuseofglass ionomers, thatreleasefluorideand

chemicallybonds to tooth structure is recommended[13].

An acid etch technique followed by composite restoration is

proposed as an alternative for the restoration of the anterior

teeth[13,14]. Inseverecases,anacrylicoverlaydenture, rest-

ing over the remnants of the crowns and roots of the primary

dentition,hasbeenusedsuccessfully[9].

Several studies have reported on cases of DI in patients with

mixed dentition and early permanent dentition. Few reports

have discussed long term prognosis and treatment outcomes

after the completion of growth. This case report aimed to

present the clinically different prognoses in siblings with DI

whowere followedupandtreatedatdifferent times for15

years.

Ⅱ.CaseReports

An11year-oldboyanda15year-oldgirl,whoweresib-

lings, visited the Department of Pediatric Dentistry at Kyung-

pook Dental Hospital with worn and yellow-brown teeth. Both

patients showed clinically severe tooth attrition and loss of

vertical dimension. In panoramic view, obliteration of the pulp

chamber and root canal, bulbous crowns with constricted cer-

vical areas, and shortened thin roots were observed.

Based on these features, they were diagnosed with DI, and

the results of a medical examination through an interview con-

firmedthatthisconditionwasinheritedfromtheirmother(Fig.

1). Inthesystemicdiseaseexamination,atentativediagnosis

of type II DI was established because osteogenesis imperfecta

was not present.

1.Case1

An11year-oldmalepatienthada latemixeddentitionat

hisfirstvisittothedepartmentofpediatricdentistry(Fig.2A,

2B,2C,3A). Further, skeletal class IIImalocclusionwasob-

served. For restorative and orthodontic treatment, the follow-

ing treatment plan was established accordingly.

Until permanent dentition was completed, restorative treat-

ment using composite resin and stainless-steel crowns could

be performed, and orthognathic surgery could also be consid-

ered under the cooperation of the Orthodontics Department

and Oral and Maxillofacial Surgery after growth completion.

Then, through full-mouth rehabilitation in the prosthodontic

department, the functional and esthetic aspect of the treat-

ment plan could be completed.

In the actual treatment process, his maxillary and mandibu-

laranterior teethwerefirst restoredwithcompositeresinto

prevent further attrition. In the regular check-up, restoration

ofthemaxillaryanteriorteethfelloutseveraltimes;therefore,

composite resin restoration was performed repeatedly. Maxil-

laryfirstmolarswerecoveredwithstainless-steelcrowns(Fig.

2D,2E,2F).Thecrownswereseverelyworn,andresinrestora-

tioncouldnotbeperformed;therefore,boththemandibular

firstmolarswereextracted.Thereafter,topreventfurtherattri-

Fig. 1. Family pedigree of siblings diagnosed with Dentino-genesis Imperfecta type II.

J Korean Acad Pediatr Dent 48(2) 2021

239

tion, the second molars that erupted were restored with com-

positeresin(Fig.3B).

After completion of growth, the patient underwent orth-

odontic treatments and orthognathic surgery for the correc-

tionofclassIIImalocclusion(Fig.3C).Attheendoftheorth-

odontictreatment,anteriorcrossbitewascorrected(Fig.2G,

2H,2I),andhewasreferredtotheprosthodonticdepartment

forrehabilitationofentiredentitionatthe11-yearfollowup.

Endodontic treatment is difficult owing to the obliterated

root canal, and there is risk of root fracture. Prosthetic treat-

ment could be performed without root canal treatment be-

cause the patient did not have any periapical lesion and pain

(Fig.3D).Usingporcelain-fused-to-metalcrownsandfullzirco-

niacrowns,alltheteethwererehabilitatedwithfixedprosthet-

ics(Fig.2J,2K,2L).Prostheticrehabilitationfulfilledtheesthetic

and functional aspect of the treatment plan.

Fig. 2.(A,B,C)Initialintraoralphotographsshowlossofverticaldimension.(D,E,F)Atthe4-yearfollow-up,Intraoralpho-tographshowsresinrestorationoftheanteriorteethandstainlesssteelcrownsettingoftheupperfirstmolars.(G,H,I)Atthe9-yearfollow-up,panoramicviewshowsorthognathicsurgeryhistory. (J,K,L)Atthe15-yearfollow-up,final intraoralphotographs show recovery of vertical dimension with a zirconia crown

J Korean Acad Pediatr Dent 48(2) 2021

240

2.Case2

A15year-old femalepatientwhowas theoldersisterof

Patient1hadapermanentdentitionwhenshefirstvisitedthe

departmentofpediatricdentistry(Fig.4A,4B,4C).Theenamel

could not be observed easily owing to severe attrition, and

periapicallesionswereobservedonthemandibularmolars(Fig.

5A).Restorativetreatmentwasnotpossiblebecausetheheight

of the crown owing to the exposed softened dentin was con-

sistent with the gingival margin. Thus, prosthodontic treatment

was planned via root canal treatment and crown lengthening

whilewearingoverdentureuntilgrowthcompletion (Fig.4D,

4E,4F).

Even after a prolonged period of root canal treatment,

closedrootcanalsmadefurthertreatmentimpossible(Fig.5B).

Thus, when growth was completed, the remaining roots were

extracted and the prosthetic restoration was performed via

full-mouthimplanttreatment(Fig.5C).Thefinalprosthesiswas

finishedwithfullzirconiacrowns.Thepatientshowedrecov-

eredverticaldimensionandgoodestheticoutcome(Fig.4G,

4H,and4I).

Ⅲ.Discussion

DI is a hereditary abnormality that may show different clini-

calmanifestations[15].Severecasesshowexcessiveandrapid

attritiononboththeprimaryandpermanentteeth[15].Mild

casesshowlittleornoattritiononthepermanentteeth[15].

In both types, primary dentition is more severely affected by

attritionthanpermanentdentition[8].Abnormaldentinalstruc-

ture might be the cause of enamel fracture, resulting from

lower numbers, varied diameters, short, twisted, and irregularly

distributeddentinaltubules[16,17].Majoranaet al .[18]declared

that in DI-affected teeth, yellow-brown discoloration is more

prevalent than gray discoloration. Both the patients showed

yellow-brown discoloration, and the enamel of the tooth was

destroyed from the incisal margin of the anterior tooth and

from the occlusal surface of the posterior tooth. The loss of

vertical dimension followed accordingly, and in the second

case, which was more severely destroyed, the exposed soft

dentin on the level of the gingival margin could be observed.

Restorative treatment for DI patients can be performed us-

ing composite resin or glass ionomer cement in the anterior

toothandstainless-steel crown in theposterior tooth[15].

Covering the permanent teeth as soon as they enter into oc-

Fig. 3. (A) Initialpanoramicviewshowssevereattritiononmixeddentition.(B)Atthe4-yearfollow-up,panoramicview shows resin restoration of the anterior teeth and stain-lesssteelcrownssettingof theupperfirstmolars. (C)Atthe9-year follow-up,panoramicviewshowsorthognathicsurgeryhistoryandcorrectionofclassIIImalocclusion.(D)Atthe15-yearfollow-up,panoramicviewshowsfinalpros-thesis with porcelain fused metal crowns and full zirconia crowns.

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Fig. 4.(A,B,C)Initialintraoralphotographsshowsevereattritiononpermanentdentitionandlossofverticaldimension.(D,E,F)Intraoralphotographsshowwearingoverdenture.(G,H,I)Atthe14-yearfollow-up,finalintraoralphotographsshowrecovery of the vertical dimension with a zirconia crown.

Fig. 5. (A) Initialpanoramicviewshowssevereattritiononpermanentdentitionandlossofverticaldimension.(B)Atthe8-yearfollow-up,panoramicviewshowscompleteobliterationofthepulpandshortenedroots.(C)Atthe14-year follow-up,finalpanoramicviewshows9upperimplantsand8lowerimplantswithzirconiacrowns

J Korean Acad Pediatr Dent 48(2) 2021

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clusion isnecessary topreventattrition[19].This treatment

is longandcomplex. Inthefirstcase, thepatientvisitedthe

hospitalduringmixeddentition;further,topreventadditional

tooth attrition, stainless-steel crown and resin restorations

were performed in the molars and incisors respectively. Patient

collaboration and parent compliance are factors of success in

restoration[19].Manytreatmentsandfollow-upswerepossible

in this case over a long period because of good cooperation

form the patients and their parents. The degree of cooperation

duringthetreatmentwashighinPatient1whocontinuedto

visit the hospital regularly for check-ups even after the restor-

ative treatment.

Despite complete pulpal obliteration, these periapical le-

sions seemtoappearon the firstmolars[12,15].Owing to

complete obliteration, endodontic treatment has very poor

prognosis, and most teeth with such radiolucencies need to

beextracted[12,15].Bothcasesshowedshortenedthinroots,

and the pulp chamber and root canal were obliterated in the

radiographicimages.Thesefeatures,makeitdifficulttocom-

plete the root canal treatment. In the second case, implant

treatment was selected after the extraction because periapical

lesions were also present.

The purpose of treatment in the permanent dentition stage,

that begins when the maxillary growth is stable, is to estab-

lishestheticappearanceandefficientmasticatoryfunctions[8].

In cases of extreme attrition or in adolescence, overdentures

areusuallya treatmentoption[20].Patient2 initiallyvisited

thehospitalduring thepermanentdentition; sheworean

overdenture to recover masticatory function and for esthetic

recovery. In fact, full coverage crowns are usually a preferred

method of restoration for DI patients because such restora-

tions protect the dental tissues from developing further dental

defects[21].Inthesecases,zirconiaandporcelaincrownswere

used. These are favorable options because they are esthetical,

haveanaccuratefit,andarebiocompatible.Along-termprog-

nostic observation is necessary for implant prostheses and

dental prostheses for DI.

Generally, for DI the recommendation is to initiate treatment

asearlyaspossible[13,22].Bouvieret al .[19] showedgood

results in the long-term prognosis with early treatment in DI

patients. The initial objectives of treatment in primary denti-

tion were to increase the vertical dimension of occlusion by

crowning the primary molars, that would enable the perma-

nentteethtoeruptwithoutundergoingearlyattrition[19].And

Sapir et al .[8]alsodeclared that it isessential thatchildren

with DI be admitted into an early treatment to halt attrition

that causes functional disorders. Darendeliler-Kaba and Marech-

aux[10] reportedthat ingrowingchildren itwasdecidedto

maintain the teeth for as long as possible under an overdenture

till the time a permanent prosthetic solution can be decided.

Inthiscasereport, inthefirstcase,amixeddentitionwas

appeared and in the second case, a permanent dentition was

appearedatthefirstvisited.Inthesecondcase,theprosthetic

treatment was completed in an edentulous state. In contrast,

thepatient in thefirstcasewasabletoundergorestorative

treatment, and prosthetic restoration was performed with

mostly natural teeth. In both the cases, the treatment cost was

high,thedurationwaslong,andthefinaltreatmentwascom-

pletedviaprosthetic restoration.There isasignificantdiffer-

ence between restoration via implants in the edentulous stage

andrestorationthroughmaximumusageofone’s remaining

teeth.

This is a case report of long-term observation of siblings

with DI. It is possible to observe how the treatment is per-

formed over a long period, and it can be good data for

predicting the prognosis in DI patients and establishing a

treatment plan for pediatric dentists who meet mainly dur-

ing primary and early mixed dentition as the prediction of the

prognosis.

One limitation of this case report is that there were no

reports of early intervention and treatment observations in

patients from the middle of the primary and mixed dentition.

If patient were observed for a long time with early interven-

tion with primary dentition, it would have enabled a better

comparison. Various prognoses as per different starting points

couldbenefitDIpatientswhoneedtobeconstantlyexposed

to long-term dental treatment. Further studies would be need-

ed in the future aimed at determining the best timing to start

treatment for DI patients.

Ⅳ.Summary

According to the type, DI may cause a wide range of tooth

attrition in a short time. In this case report, both the treatment

periods were lengthy, and finally, prosthetic restoration was

required. Different treatment results were obtained with the

difference in the timing of intervention for the siblings. This

supports the importance of early intervention in DI.

J Korean Acad Pediatr Dent 48(2) 2021

243

Authors’Information

Gi-Min Kim https://orcid.org/0000-0002-2979-070X

Jae-Sik Lee https://orcid.org/0000-0001-5514-4595

References

1.BhandariS,PannuK:Dentinogenesisimperfecta:Areview

and case report of a family over four generations. Indian J

Dent Res ,19:357-361,2008.

2.KimJW,SimmerJP:Hereditarydentindefects.J Dent Res ,

86:392-399,2007.

3.SubramaniamP,MathewS,SugnaniSN :Dentinogenesis

imperfecta: a case report. J Indian Soc Pedod Prev Dent ,

26:85-87,2008.

4.KimJW,NamSH,SimmerJP,et al . : A novel splice acceptor

mutation in the DSPP gene causing dentinogenesis imper-

fecta type II. Hum Genet ,115:248-254,2004.

5.ShieldsED,BixlerD,el-KafrawyAM:Aproposalclassifica-

tion for heritable human dentin defects with a description

of a new entity. Arch Oral Biol ,18:543-553,1973.

6.WitkopCJ,RaoS : InheritedDefects inToothStructure.

Birth Deffects Orig Aric Ser ,7:153-184,1971.

7.GibbardPD:Themanagementofchildrenandadolescents

suffering from amelogenesis imperfecta and dentinogen-

esis imperfecta. Int J Orthod ,12:15-25,1974.

8.SapirS,Shapira J :Dentinogenesis imperfecta:Anearly

strategy. Pediatr Dent ,23:232-237,2001.

9.Moundouri-AndritsakisH,KourtisSG,AndritsakisDP :All-

ceramic restorations for complete-mouth rehabilitation in

dentinogenesis imperfecta: A case report. QuintessenceInt ,

33:656-660,2002.

10.Darendeliler-KabaA,MarechauxSC :Hereditarydentino-

genesis imperfecta: A treatment program using an over-

denture. J Dent Child ,59:273-276,1992.

11.SolimanS,Meyer-MarcottyP,KrastlG,et al . : Treatment

of an Adolescent Patient with Dentinogenesis Imperfecta

Using Indirect Composite Restorations-A Case Report and

Literature Review. J Adhes Dent ,20:345-354,2018.

12.PettietteMT,WrightJT,TropeM :Dentinogenesis imper-

fecta: Endodontic implications. Case report. Oral Surg Oral

Med Oral Pathol Oral Radiol Endod ,86:733-737,1998.

13.RantaH,LukinmaaPL,WaltimoJ :Heritabledentinde-

fects: Nosolgy, pathology and treatment. Am J Med Genet,

45:193-200,1993.

14.PosnickWR :Treatmentofhereditaryopalescentdentin:

report of case. J Dent Child ,43:46-48,1976.

15.BouvierD,DuprezJP,MorrierJJ,et al . : Strategies for reha-

bilitation in the treatment of dentinogenesis imperfecta in

a child: A clinical report. J Prosthet Dent ,75:238-241,1996.

16.BiriaM,AbbasFM,AhmadiR,et al . : Dentinogenesis im-

perfecta associated with osteogenesis imperfecta. J Dent

Res ,9:489-494,2012.

17.SeowWK:Developmentaldefectsofenamelanddentine:

challenges for basic science research and clinical manage-

ment. Aust Dent J ,59:143-154,2014.

18.MajoranaA,BardelliniE,FaviaG,et al . : Dentinogenesis

imperfecta in children with osteogenesis imperfecta: a clin-

ical and ultrastructural study. Int J Paediatr Dent ,20:112-

118,2010.

19.BouvierD,LeheisB,JeanL,et al . : Dentinogenesis Imper-

fecta: Long-term Rehabilitation in a Child. J Dent Child ,75:

192-196,2008.

20.JoahiN,ParkashH :Oralrehabilitation indentinogenesis

imperfecta with overdentures: Case report. J Clin Pediatr

Dent ,22:99-102,1998.

21.EdelhoffD,WeberV,JovanovicSA,et al . : IPSEmpress2

porcelain crowns and bridges. J Multidiscipl Collab Prosth-

odont ,2:64-66,2002.

22.WrightJT:Thediagnosisandtreatmentofdentinogenesis

imperfecta and amelogenesis imperfecta. Hellenic Dent J,

2:17-24,1992.

JKoreanAcadPediatrDent48(2)2021

244

국문초록

상아질형성부전증남매의치료개입시기에따른상이한장기예후:증례보고

김기민ㆍ이제식

경북대학교치의학대학원소아치과학교실

상아질형성부전증은상아질형성이상이초래되는유전성질환으로상염색체우성형질을따른다.상아질형성부전증은유치와영

구치모두이환되며,다양한치아변색,상아질및법랑질파괴,심한치아마모등의임상소견을보인다.방사선학적으로치아는가느

다란치근과둥그런치과의형태를보이고치수강은적거나폐쇄되었다.상아질형성부전증의치료는추가적인마모를방지하고수직

고경회복을목표로한다.

본증례는치아의마모와변색을주소로내원한상아질형성부전증을지닌남매의상이한15년간의장기예후를보고하고자한다.

두환자에서치료개입시기의차이에따라상이한치료과정을볼수있다.첫번째환아는대부분의본인치아를살렸으나,두번째환

아는모든치아를발치하였다.이는상아질형성부전증의조기진단및치료방법결정에도움이될수있다.