Email updates

Keep up to date with the latest news and content from Head & Face Medicine and BioMed Central.

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

Open Access Open Badges 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

For all author emails, please log on.

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:

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 (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.


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.