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CASE REPORT

Spectrum of dentin dysplasia in a family: case reportand literature reviewW. Kim Seow, BDS, MDSc, DDSc, PhD Stephen Shusterman, DMD

Abstract

The dentin dysplasias (DD), which may be classified as type I (DD1) or type 2 (DD2), form a group of rare, inherited abnormalities that are clinically distinct from dentinogenesis imperfecta. Studies of affected families may help to distinguish differenttypes of DD and provide further insight into their etiology and clinical management. This report describes a family that showedcharacteristic dental features of D D1, including clinically normal crowns in both primary and permanent dentitions, and mobile teeththat may be associated with premature exfoliation. Radiographic features included calcification of the pulp with crescent-shaped,radiolucent pulp remnants, short, tapering, taurodontic roots, and many periapical pathoses that may be q¢sts or granulomas. Aspectrum of dentin dysplasia was noted within the family. Strategies to prevent pulp and periapical infections and early exfoliationof the teeth include meticulous oral hygiene and effective caries-preventive measures. ( P ed iatr Dent 16:437-42,1994)

Introduction and literature review

Dentin dysplasias (DD) form a group of rare dentinabnormalities that are clinically distinct fromdentinogenesis imperfecta.1-3 Since its recognition in19203 as "rootless teeth" and as "dentin dysplasia" byRushton in 1933,4 the clinical features of DD have beenwell described. However, to date, relatively little isknown about the pathogenesis of the dentin defects, ortheir pathological and clinical implications. As over-lapping pathological features may be present in thevarious types of DD, studies of affected families mayhelp to delineate different types and provide furtherinsight into the etiology and clinical management ofthese conditions.

Classification of dentin dysplasias

Generally, two main classes of DD are recognizedbased on clinical and radiographic appearance. Shieldset al. 2 proposed the classifications -- type I, or "dentindysplasia," and type II or "anomalous dysplasia ofdentin." Witkop1 later described type I as "radiculardentin dysplasia" and type II as "coronal dentin dys-plasia" to indicate the parts of the teeth that are prima-rily involved. A third type of dentin dysplasia, DD3 orfocal odontoblastic dysplasia, also has been proposed.S

Dentin dysplasia, type I (DD1)

The classical features in DD1, which have been welldocumented by several case reports,3-9 are: 1) normal-appearing clinical crowns in both dentitions; 2) short,conical, or absent roots that may lead to mobility andearly exfoliation of the teeth; 3) total obliteration of thepulps except for thin, crescent-shaped pulpal remnantsparallel to the cementoenamel junctions; and 4)periapical radiolucent areas, which may be granulo-mas or cysts associated with noncarious teeth.

Histologically, in DD1, most of the coronal andmantle dentin of the root is usually reported to benormal, and the dentin defect is confined mainly to theroot2, s, 10 The dysplastic dentin has been reported toconsist of numerous denticles, containing whorls ofosteodentin that block the normal course of the den-tinal tubules,s, 10,11

A recent suggestion12 to subclassify DD1 into foursubdivisions based on the radiographic appearance ofthe pulp chambers is not likely to be clinically feasibledue to the simultaneous presence of all varieties of thepulp chambers in any particular patient. Simpler sub-classifications 13 into either mild or severe may be moreclinically relevant.

Dentin dysplasia, type II (DD2)

The clinical features of DD2 contrast sharply withthose of DD1, and consist classically of: primary teeththat have a bluish or amber discoloration, and perma-nent teeth that appear normal;14-17 and primary teeththat show total pulp obliteration, and permanent teeththat show thistle-tube pulp configuration and pulpstones in pulp chambers.14-17

Histologically, the affected teeth in DD2 typicallyshow a thin layer of normal coronal dentin and a sud-den transition to dysplastic dentin, which is scleroticand amorphous with few tubules.2,3,17

Mode of inheritance

In both types of DD, the mode of inheritance is auto-somal dominanto1, a However, there is no informationregarding the gene defects in any type of DD.

Etiology

The etiology of DD1 remains speculative. Logan etal. is suggested that abnormal calcification of the pulp is

Pediatric Dentistry: November/December 1994 - Volume 16, Number 6 437

related to degeneration of the dental papilla, whereasSauk and coworkers1° postulated that premature in-vagination of the epithelial root sheath is associatedwith abnormal dentin deposition. An alternative hy-pothesis8 that has received greater attention is that theprimary defect in DD1 resides in the ectomesenchymallyderived odontoblasts, and that the abnormal root mor-phology is secondary to abnormal odontoblastic func-tion or differentiation. Supporting this hypothesis is afurther suggestion that as the early formed mantle den-tin is normal, and the later-formed dentin is abnormal,the defect may be related to defective interaction ofodontoblasts with the ameloblastic layer29

As is the case with DD1, the etiology of the dentindefects in DD2 is enigmatic. As in DD1, the change tothe formation of abnormal dentin after a period of nor-mal dentin formation suggests a genetically based de-fect of an enzyme system involved in the normal induc-tion of odontoblast function.

Differential diagnosis

Differential diagnosis of DD from dentinogenesisimperfecta (DI) is important, since there are severaloverlapping features in these conditions (Table 1). DI, the mode of inheritance is also autosomal domi-nant.a0, 21 However, in DI, there is amber-gray opales-

cence associated with marked attrition of both denti-tions,2°-21 whereas in DD2, the discoloration and attritionare limited to only the primary dentition, and in DD1,the teeth are clinically normal. Radiographically, DIpresents with bulbous crowns and short roots,2°-2~

whereas DD1 shows taurodontism, and DD2 usuallyshows normal crown and root outlines. In addition,while all three entities show pulp obliteration, onlyDD2 shows typical thistle-shaped pulp chambers.

In addition to local primary defects of dentin, a fewgeneralized, systemic conditions may show extensiveobliteration of the pulp resembling the dental defects

Table. Characteristic features of dentin dysplasia and dentinogenesis imperfecta

Dentin Dysplasia(DD)

DentinogenesisImperfecta (DI)

Type I (DD1) Type 2 (DD2)

Inheritance AD AD AD

Clinical

Prim. & perm.teeth discolored °

++

Appearance Prim. & perm. Prim. teeth - discolored"teeth - normal Perm. teeth - normal

Mobility ++ -

Attrition - + (Prim. teeth)

RadiographicBulbous crowns -

Short roots ++

Taurodontism ++

Periapicalradiolucencies ++

Pulp obliteration ++

Pulp remnants Horizontalline at CEJ

+

++

Thistle-shapedpulp chambers

++

+

+

++

Minimal pulpremaining

Histologic

Mantle dentin Normal

Coronal dentin Irregular tubules,whorls ofosteodentin

Normal

Prim. teeth - irregulartubules

Perm. teeth - normal

True denticles,excessive dentinremodelling

Normal

Mainly atubulardentin, laminations,some denticles.

Root dentin

¯ The discolored teeth in both cases usually appear opalescent and amber or gray.

AD = autosomal dominant.

of DD. These generalizedconditions include tumoralcalcinosis, 22 which showsextensive calcification ofjoints and the pulps of theteeth, as well as the brachio-skeletogenital syndrome,23

which shows mental retar-dation, abnormal ribs, bonesclerosis, and hypospadias.In addition, a possibly newsyndrome of dentinal dys-plasia occurring with gen-eral bone sclerosis also hadbeen described.24

Case reportProband

Medical and dentalhistories

The proband was an 8-year-old male who was re-ferred by his general den-tist for further dentalmanagement, his fatherhaving been previously di-agnosed with dentin dys-plasia. The medical historywas noncontributory. Inparticular, there was no his-tory of bone disease or un-usual bone fractures. Hewas the product of a full-term, uncomplicated preg-nancy, birthweight 7 lbs.

His dental history re-vealed that eruption of theprimary dentition was un-

438 Pediatric Dentistry: November/December 1994 - Volume 16, Number 6

Figs 1, 2.Buccal views ofthe left (left) and right(right) posterior teethshowing the loss ofperiodontal attachment ofthe mandibular secondmolars, and the buccalcrossbites of the maxillaryprimary canines.

remarkable in timing and sequence. Mobil-ity of the teeth had been noticed by the par-ents. There was no history of dental infec-tion, and no restorations had been placed.

General examinationGeneral examination revealed a healthy,

intelligent 8-year-old of normal height (48in.), and weight (65 lbs). His face was nor-mal, orthognathic, and symmetrical withClass 1 profile.

Dental examinationThe patient had an early mixed denti-

tion with all first permanent molars andmandibular central incisors partiallyerupted. The crowns of the primary teethand erupting permanent teeth had normalshape and color, except that the cervicalthirds appeared opaque. Mobility of theteeth was severe for all second primarymolars and incisors, moderate in the firstprimary molars, and minimal in the pri-mary canines.

The occlusion was Angle's Class I withminimal overjet and overbite. The maxillary primarycanines were in buccal crossbite, resulting most likelyfrom buccal migration of the mandibular primary ca-nines. There was severe buccal displacement of themandibular second primary molars with exposure ofthe resorbed radicular borders of the these teeth (Figs 1and 2). Around these mobile teeth were gross accumu-lations of plaque and severe periodontal inflammation.In other teeth, plaque and gingivitis was minimal. Therewas no periodontal pocketing greater than 2 mm.

Radiographic examinationA panoramic radiograph (Fig 3) showed the pres-

ence of all permanent teeth except the third molars.Positions of the developing permanent teeth were nor-mal except for the maxillary right second premolar,which was rotated.

All teeth showed calcification and obliteration of thepulp including those of the developing permanent teeth.Horizontal radiolucent lines approximately parallel to

Fig 3. Panoramic radiograph of proband showing calcification and obliterationof all the dental pulps including those of the developing teeth. Note horizontalradiolucent lines approximately parallel to the cementoenamel junctions andthe large periapical radiolucencies around the resorbed roots of the primarymolars.

the cementoenamel junctions, probably representingremnants of the pulp, were noted. In addition, largeradiolucencies were observed apical to the roots of theprimary molars, which were severely resorbed. Theleft mandibular first permanent molar and the left max-illary second primary molar both appeared taurodontic.It was difficult to assess the remaining teeth because ofthe significant amount of root resorption.

Histopathological examinationA naturally exfoliated primary incisor tooth was

available for histological examination. A ground sec-tion (Fig 4) showed a normal outline of the tooth andnormal enamel formation. The coronal dentin, imme-diately subjacent to the enamel, appeared normal. Therewas an abrupt transition of the dentin to an abnormalpattern in the deeper layers. The abnormal dentin ap-peared to contain multiple foci of calcification sur-rounded by whorls of irregular tubular dentin. Thesecalcified masses were separated by fine channels.


Fig 4. Ground section ofa naturally exfoliatedprimary incisor from theproband. Note normaloutline of the tooth andnormal enamel. Thecoronal dentin appearsnormal from the incisaledge to a level approx-imately parallel to thecementoenamel junction,after which there isan abrupt change todysmorphic dentin. Theabnormal dentin consistsof many foci of calci-fication containing whorlsof irregular tubulardentin. Fine channels arepresent between thecalcified masses.

Affected sibling

Medical and dental historiesAn affected 10-year-old brother was available for

dental examination. His medical history wasnoncontributory although he suffered from mild asthmafor which he took prophylactic cromoglycate. At birthhe was full-term following an uncomplicated preg-nancy, and weighed 7 lb 12 oz. At 9 weeks, he wastreated for pyloric stenosis, and at 12 weeks, he under-went surgical correction for an inguinal hernia.

General examinationAt the initial dental visit, he was a

healthy, intelligent boy of normal height(56 in.) and weight (65 lbs). His face wassymmetrical, and his profile straight.

Dental examinationDental examination revealed good oral

hygiene and minimal plaque and gingivi-tis. There was no periodontal pocketinggreater than 3 mm.

The patient was in the mixed dentitionappropriate for his age. The first perma-nent molars, all incisors, and the maxillaryright first premolar were fully erupted.A well-fitting band-loop space maintainerhad been placed on the maxillary rightsecond primary molar. The maxillaryright first primary molar had been ex-tracted approximately a year earlierdue to an "abscess."

Like his brother, all the primary and

permanent teeth were normal shape and size. Mild,diffuse brown opacities were noted on the facial sur-faces of all the incisors and first permanent molars. Theocclusion was Class I, with normal overjet and over-bite. Except for a moderately mobile mandibular leftfirst primary molar, all the other teeth exhibited nor-mal mobility.

Radiographic examinationA panoramic radiograph (Fig 5) revealed all perma-

nent teeth to be present, including the crypts of thedeveloping mandibular third molars. The radiographicappearance of the teeth was similar to those noted inthe proband. Calcification of the pulp was noted inboth erupted and developing permanent teeth as wellas the remaining primary teeth. In both primary andpermanent molars, horizontal radiolucent lines paral-lel to the cementoenamel junctions were noted, repre-senting remnants of the pulp. In the developingpremolars, these pulp chambers were larger and moretriangular, with fine extensions communicating withthe bone on the mesial and distal surfaces of the root. Inaddition, all the permanent and primary molars ap-peared taurodontic.

Affected father

General examinationThe affected father also had an unremarkable medi-

cal history. He had no dysmorphic features and wasnormal height (6 ft) and weight (170 lbs).

Dental examinationDental examination revealed very good oral hygiene

with minimal gingivitis. The maxillary left first premolarand first molar, the mandibular left first molar, and the

Fig 5. Panoramic radiograph of proband's brother. Note severe calcificationand obliteration of the pulps of the posterior teeth, but relatively normal pulpchambers in the anterior teeth.


Fig 6. Panoramic radiograph of affected father of proband shows severecalcification of the pulps of the molars. Fine, thread-like remnants of the pulpsare discernible on those anterior teeth that had not had endodontic treatment.Note successful retrograde endodontic fillings on the mandibular right secondmolar, and maxillary left second premolar. The roots of the mandibular caninesand the maxillary left first premolar appear dilacerated.

mandibular right first and second molars had beenpreviously extracted due to infection. A five-unit leftmaxillary and a three-unit left mandibular bridge re-placed the missing teeth. The anterior teeth appeareddiscolored, most likely secondary to endodontictherapy. There was minimal tooth mobility.

Radiographic examinationA panoramic radiograph (Fig 6) revealed successful

conventional root canal treatment in both maxillarycentral and left lateral incisors, and the mandibular leftcentral incisor. In addition, successful retrograde me-tallic restorations were noted in the root apices of themaxillary right second premolar and the mandibularleft second molar. Dilaceration of the root was noted inboth mandibular canines and the maxillary right firstpremolar. In addition, the maxillary molars weretaurodontic. Significant periodontal bone loss was notedaround most teeth. A periapical full-mouth radio-graphic survey confirmed these findings. In addition,thread-like remnants of the pulp were noted onnonendodontically treated teeth.

Family pedigreeA family pedigree (Fig 7) showed that the most likely

mode of inheritance is autosomal dominant with a highdegree of penetrance.

DiscussionThe family in this report has clear features of DDI

such as clinically normal crowns, mobility of the teeth,pulp obliteration with horizontal crescent-shaped pulpremnants at cementoenamel junctions, multipleradiolucencies, taurodontism and short, tapering roots.The defect in this family may be considered relatively

mild as the root lengths were not exces-sively short, and the father had been ableto retain his teeth well into middle age.

However, in addition to the typical fea-tures of DDI, the family also showed cer-tain features found in DD2. Of note werethe fully erupted maxillary and mandibu-lar anterior teeth of the older child, whichappeared to have radiographically patentradicular pulp chambers. This feature ofuncalcified pulp chambers at the time oferuption is considered a characteristic fea-ture of DD2.9-15'16 Furthermore, in the fa-ther, narrow but patent pulp chamberswere still discernible in the anterior andpremolar teeth.

This family thus shows a spectrum ofDD with features of both types 1 and 2, andresembles a previously reported family9

that showed similar dental findings. Inthis regard, this report supports the theorythat a range of severity occurs in this

condition, and that subclassifications of DDI intofurther divisions is not warranted based on currentlyavailable information.

One of the main clinical problems encountered inDDI are short, tapering roots associated with toothmobility and premature exfoliation.1'3 In this family,however, the root lengths were not excessively short-ened, and mobility was observed in the primary denti-tion only. Furthermore, the excellent oral hygiene prac-ticed by the patients has prevented further attachmentloss from periodontal infections. In the father, the pres-ence of a maxillary five-unit bridge that had lastedapproximately 10 years further attests to the slow rateof periodontal bone loss in this patient. As intrinsicabnormalities of the cementum are not consistent fea-

•-T-O

c Normal female• Affected female

Normal maleAffected male

Fig 7. Pedigree of proband's family shows autosomal dominantmode of transmission of condition, and high degree of penetrance(arrow shows proband).


tures8,17 of DD, it is likely that loss of periodontal at-

tachment may be adequately prevented through effec-tive oral hygiene.

Although not histologically identified in the presentfamily, periapical granulomas and apical cysts1-~ presentanother important management problem. These arelikely to have resulted from "spontaneous" pulp infec-tions associated with severe pulp obliteration. In addi-tion, abnormal extensions of the pulp occlusally maycause pulp exposures from minimal dental caries. 3 Thus,effective preventive measures for dental caries such asfissure sealants and topical fluoride are important as-pects of patient management. Prophylactic stainlesssteel crowns may be considered for patients with ac-companying enamel hypoplasia, but care must be takento prevent periodontal inflammation, which may exac-erbate the likelihood of early exfoliation.

In the primary dentition, extraction of involved teethand space maintenance are the obvious treatments forpulpal infections. However, in the permanent denti-tion, both conventional and retrograde root fillings havebeen successful, as demonstrated in the present andprevious cases.", 25

In conclusion, DD is a rare, inherited abnormality ofdentin that may lead to early exfoliation of the teeth.Early diagnosis of the condition and application ofeffective preventive strategies may help prevent ordelay loss of the dentition.

Dr. Seow is associate professor, pediatric dentistry, University ofQueensland Dental School, Brisbane, Australia, and visiting profes-sor, Harvard School of Dental Medicine and the Children’s Hospitaland Dr. Shusterman is chief of dentistry, Children’s Hospital, Boston,Massachusetts.

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