A variant of the Ekman-Westborg–Julin trait. A case report and review of the literature

In 1974, Ekman-Westborg and Julin reported a case which had macrodontia, multituberculism, central cusps, and pulp invagination in many permanent teeth. Occurrence of these findings in an individual patient is extremely rare; only 12 similar cases have been reported. In this paper, we describe a case with all the clinical signs related to this trait, and report histopathological features of impacted tooth-like structure, one of the common findings among the patients, in detail.A 25-year-old male presented with dental morphology anomalies such as macrodontia and multituberculism in multiple permanent teeth, shovel-shaped incisors, single conical molar teeth, impacted large tooth-like masses and specific features of long face and curly and coarse hair. The histopathological examination revealed that the impacted structure was severely deformed single tooth retaining well-innervated vital pulp, considerable amount of enamel matrix in some area and trace of attachment apparatus. It seems that these findings condense characters of the dental morphology anomalies in this trait. Although the possibility of syndromes such as the KBG syndrome was ruled out, yet the etiology of this trait is not known. Inferring from the facts that these features are associated with the ectoderm, and recent genetic studies in the Asian population demonstrated that the ectodysplasin A receptor gene (EDAR) polymorphism has pleiotropic effects on tooth morphology and hair thickness, a mutant gene which controls tooth development may be considered responsible. In future research, genetic polymorphisms associated with common morphology anomalies may elucidate the etiology for the so-called Ekman-Westborg–Julin trait.