The Ekman-Westborg and Julin trait: report of a case

Judit A. Nemes, DDS,a and Marta Alberth, MD, LDS,b Debrecen, Hungary
FACULTY OF DENTISTRY, MEDICAL AND HEALTH SCIENCE CENTER, UNIVERSITY OF DEBRECEN

Macrodontia associated with multituberculism, central cusps, and pulpal invaginations is reported in a 7year-old Hungarian girl. Over 5 years follow-up the problems of the diagnosis, the similarity with and relationship to the Ekman-Westborg and Julin trait, and the difculties of the treatment are discussed. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006;102:659-62)

Macrodontia of a single tooth is a relatively uncommon condition, and the majority of cases are reported in mandibular molars or premolars.1-4 Macrodontia of incisors is extremely rare and may be confused with fusion or germination of adjacent teeth to form a single tooth.5,6 Multiple macrodontia is rare, but it may be associated with insulin-resistant diabetes, otodental syndrome, or facial hemihyperplasia.7-11 Large maxillary incisors have been reported in KBG syndrome. Generalized macrodontia may be caused by hormonal imbalance, as has been described in pituitary gigantism.7 In 47,XYY syndrome, generalized macrodontia and shovel-shaped incisors have been reported.12,13 It should be remembered that an illusion of generalized macrodontia will occur if the jaws are small relative to the size of the teeth. Combined dental morphologic anomalies have been rarely described in the literature. In 1974, EkmanWestborg and Julin14 reported a unique example of multiple dental malformations. In addition to multiple macrodontia and multituberculism of the posterior teeth, single conical molar roots, pulp invaginations and evaginations in premolars, and peak-shaped canines were demonstrated in the permanent dentition of a 14-year-old male.14 Similar cases were reported by Reichart et al.,15 Miikada et al.,16 Ritzau et al.,17 Nakagawa et al.,18 and Benjamin et al.19 Variants of this condition were reported by Mann et al.20 and by Yoda et al.21 Previously, the authors used the Ekman-WestborgJulin syndrome name to determine this condia

tion. As this anomaly is not a syndrome, only a collection of unusual abnormalities isolated to teeth, Benjamin et al.19 proposed multiple macrodontic multituberculism as a better name for these typical dental alterations. Although the leading signs in these cases were generalized macrodontia and multituberculism, there were many other important abnormalities in all cases, so we propose Ekman-Westborg and Julin trait as a name to determine this condition. Our aim is to present a new case which appears to manifest all the clinical signs of the Ekman-Westborg and Julin trait and to discuss the problems of the treatment. CASE REPORT Clinical presentation
A 7-year-old Hungarian girl was referred to the Department of Pediatric Dentistry, Medical and Health Science Center, University of Debrecen, Hungary, for consultation concerning macrodontia combined with bimaxillary crowding. The patients medical history included the usual childhood infections without complications. The mothers pregnancy had been normal, and no genetic disorders were found in the family history. The clinical and radiologic examination of the parents and sisters showed no dental anomalies. Consanguinity was denied. Results of physical examination and routine laboratory tests were within normal limits. A normal karyogram of the patient excluded any chromosomal anomalies. Mild mental retardation was noted. Extraoral inspection showed habitual open mouth posture with mouth breathing. Intraoral examination revealed anterior open-bite, Angle IItype occlusion with maxillary prominence. All the primary teeth and the upper permanent molars were carious. Otherwise the primary teeth were of normal shape and size. The upper left central permanent incisor exhibited extremely large shovel-shaped crown (mesiodistal width 11.7 mm, buccolingual width 10.5 mm) and a wide and deep invagination on the palatal side (Figs. 1 and 2). The permanent molars were enlarged and had several extra cusps. Roentgenographic examination showed generalized macrodontia of the permanent teeth, single conical roots of the permanent molars, the agenesia of the permanent lower central incisors, multituberculism of the molars and premolars,

Assistant Professor, Department of Pediatric Dentistry, Faculty of Dentistry, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary. b Assistant Professor, Department of Pediatric Dentistry, Faculty of Dentistry, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary. Received for publication Jan 24, 2005; returned for revision Sep 01, 2005; accepted for publication Sep 12, 2005. 1079-2104/$ - see front matter 2006 Mosby, Inc. All rights reserved. doi:10.1016/j.tripleo.2005.09.007

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Fig. 1. Palatal aspect of the maxillary left central incisor. The invagination is divided into compartments by enamel crests.

Fig. 3. Orthopantomogram at the age of 9.5, before surgical removal of the mandibular right rst molar. Note the signs of resorption on the mesial root.

Fig. 2. Periapical radiograph showing abnormally large invaginated maxillary incisors. Fig. 4. Surgically removed maxillary second premolar. Mesiodistal width 12.6 mm, buccolingual width 14.2 mm. central cusps on the lower premolars, and invaginations on all the upper incisors. When the patient was 8 years old, we had to remove tooth #19 because of a serious pulpal inammation. When the patient was 9.5 years old, the root of the lower right rst molar showed the signs of resorption secondary to the pressure of the erupting second premolar (Fig. 3). The extraction of tooth #30 was performed under general anesthesia. When the patient was 11 years old, the disparity between the size of the upper teeth and the upper jaw was evident, so for orthodontic considerations, namely to prevent further crowding, we removed teeth #4 and #13 under general anesthesia. The crowns of these maxillary premolars were mesiodistally 68% and buccolingually 57% larger than average22 (Fig. 4).

Differential diagnosis
The presence of macrodontic maxillary central incisors and the mild mental retardation was suggestive of KBG syndrome; however, the lack of the characteristic face, brachy-

dactyly, and skeletal abnormalities such as vertebral, metacarpal, and femoral anomalies excluded this diagnosis. Enlarged multituberculated molars are a commonly reported feature of otodental syndrome, but there was no sensorineural hearing loss to support this diagnosis. Based on the laboratory tests we excluded insulin-resistant diabetes and hyperpituitarism, in which multiple or generalized macrodontia have been reported. Because the lack of the enlargement of the jaws and the soft tissues was obvious and the face was symmetrical, the diagnosis of hemifacial hypertrophy was excluded. Although in 47,XYY syndrome generalized macrodontia and shovelshaped incisors have been reported, the normal karyogram ruled out this diagnosis. The oral features reported in this case were consistent with a diagnosis of Ekman-Westborg and Julin trait.

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DISCUSSION Similarities between our case and the 6 formerly reported cases are evident (Table I). Genetic cause could not be demonstrated in any of the cases of Ekman-Westborg and Julin trait. All are sporadic cases and there is no parental consanguinity. With our report the male:female ratio is 5:2. Mild mental retardation was present in 3 of the 7 reported cases. Although 7 patients have been reported and studied, there has been no direct evidence or any clues to clarify the cause of this trait. We think that this new case demonstrates a variant of the Ekman-Westborg and Julin phenotype. The 4 leading signs in our case are macrodontia, multituberculism, central evaginations, and invaginations. Macrodontia, which was assumed to be the leading clinical sign in our case, can be categorized as follows: true generalized, relative generalized, and isolated macrodontia of single teeth.23 True generalized macrodontia associated with hyperpituitarism or other (unknown) etiology is rare, whereas relative generalized macrodontia is more common but difcult to dene. Macrodontia of single teeth or groups of teeth has occasionally been described. Pathogenetically the underlying mechanism of macrodontia is unknown. In our case we found enlarged teeth in normal-size jaws, so it can be classied as true generalized macrodontia (Table II). Multituberculism and the presence of central cusps are important characteristics of the Ekman-Westborg and Julin trait. In our case, not only the molars were multituberculated, but all the premolars and upper incisors had enlarged multitubercular crowns. Central evaginations (cusps) were seen on the lower premolars. In most cases a ne pulpal extension was demonstrable in the dentinal core of the cusp. Invagination could be the result either of active proliferation of an area of the enamel organ, with infolding of the proliferating cells into the dental papilla, or of displacement of part of the enamel organ into the papilla as a result of abnormal pressure from the surrounding tissue.24 Finally, of the 4 leading signs we have to mention the invaginations. The coronal invaginations observed in the upper incisors are difcult to explain. According to Oehlers classication25 the investigated invaginations belong to group I. In this group the crown has a normal or near-normal appearance but the occlusal/palatal surface shows a complicated ssure pattern; from a pit or ssure, an invagination may arise. The enamel lining is often decient at the base of invagination. The invagination in the present case seems to be the result of an inclusion of a portion of the enamel organ. All the 4 leading signs mentioned above raise special treatment problems. The generalized macrodontia results in serious orthodontic anomalies, such as anterior open bite and crowding. Multituberculism, evagina-

Table I. Clinical features of Ekman-Westborg and Julin trait

Ekman-Westborg and Julin (1974) Macrodontiapermanent teeth Macrodontiaprimary teeth Multituberculism Central cusp Dental invagination Shovel-shaped incisors Peak-shaped canines Single conical roots Dental agenesis Dental crowding Dental impaction Open bite Mental retardation

Reichart et al. (1978)

Miikada et al. (1995)

Ritzau et al. (1997)

Nakagawa et al. (1997)

Bejamin et al. (2003)

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Table II. Tooth dimensions in Ekman-Westborg and Julin trait (EWJ) and in normal cases (mm)
Normal mesiodistal Maxillary central incisor Maxillary premolar Maxillary molar Mandibular lateral incisor Mandibular premolar Mandibular molar 8.5 7 10 5.5 7 10.5 EWJ mesiodistal 11.7 12.6 13.8 7.1 12.3 13.7 Normal buccolingual 7 9 11 6.5 8 10 EWJ buccolingual 10.5 14.2 13.8 6.6 10.6 14.7

tions, and invaginations increase caries susceptibility and, as weak points, often allow pulpal infections to develop. Endodontic treatment of these teeth can be complicated. These patients need regular follow-up to prevent undesirable complications. Effective caries prevention, preventive restorations, and orthodontic consultation are essential as soon as the abnormal teeth appear in the oral cavity.
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Reprint requests: Dr Judit A. Nemes Faculty of Dentistry Medical and Health Science Center University of Debrecen Debrecen, Hungary nemesj@jaguar.unideb.hu