Tricho-Dento-Osseous syndrome and its phenotypic aspect: a case report

Abstract

Background: Tricho-Dento-Osseous syndrome is a rare autosomal dominant disorder which belongs to the group of ectodermal dysplasias, which usually affects hair, teeth, bones, nails and/or skin. It is difficult to recognize and name the diagnosis of Tricho-dento- osseous sindrome (TDO) because of its various possible phenotypic aspects, as not always all triad of the clinical features are evident, some defects are not visible namely the defects of hair, nail and bones. The purpose of this case report case is to help to detect general and intraoral features which are meant to be consistent in this TDO syndrome, which would help to make diagnosis quickly and precisely and start the treatment as soon as possible. Case presentation: An 8.5 year-old boy together with his mother addressed to our Clinic for Preventive and Paediatric Dentistry, in Kaunas. The patient was diagnosed with the main clinical features of TDO sindrome: severe generalized enamel hypoplasia, kinky, uncombable hair and nail or skin defects, but taurodontia and bone density deffects are not identified in our clincal case. Conclusion: According to clinical and radiological data, the TDO syndrome with attenuated phenotypic expression was diagnosed to our clinical case. If we want to prove our diagnosis, we need a molecular genetic investigation of DLX3 gene. This article reveals the variety of phenotypic expressions of TDO syndrome, and shows that its explanation requires further studies, which would help to better understand the genetic-phenotypic correlation.