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This article is part of the supplement: Proceedings of the 5th International Conference on Ectodermal Dysplasia (ED2012)

Open Access Poster presentation

Oral manifestation of Goltz-Gorlin syndrome in a young girl

M Callea1*, I Yavuz2, L Deroma3, M Montanari4, G Clarich1, M Maglione5, E Albertini6 and L Garavelli7

  • * Corresponding author: M Callea

Author Affiliations

1 Department of Maxillo-Facial Surgery and Paediatric Dentistry, Institute for Maternal and Child Health, Trieste, Italy

2 Dicle University, Diyarbakır, Turkey

3 University Hospital Santa Maria della Misericordia, Udine, Italy

4 University of Bologna, Italy

5 University of Trieste, Italy

6 University of Ferrara, Italy

7 S. Maria Nuova Hospital, Reggio Emilia, Italy

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Head & Face Medicine 2012, 8(Suppl 1):P8  doi:10.1186/1746-160X-8-S1-P8


The electronic version of this article is the complete one and can be found online at: http://www.head-face-med.com/content/8/S1/P8


Published:25 May 2012

© 2012 Callea et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Introduction

Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. It is caused by loss-of-function mutations in the PORCN gene. We report the case of a young female, focusing on the dental features.

Aim

To describe the oral manifestation of a rare disorder that resembles ectodermal dysplasia (ED).

Case report

Clinical, radiological and genetic findings revealed common features of Goltz-Gorlin syndrome and pure ED. Oro-dental characteristics of the patient mostly corresponded to those described in the literature. However, previously unreported oro-dental findings such as taurodontism, peg-shaped teeth and microdontia are considered unusual for Goltz-Gorlin syndrome, but similar to the dental features of hypohidrotic ED. Clinical characterization of the patient by a multidisciplinary approach is described and a comprehensive review of the literature is presented.