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Oral manifestation of Goltz-Gorlin syndrome in a young girl

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.

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Correspondence to M Callea.

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This article is published under license to 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.

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Callea, M., Yavuz, I., Deroma, L. et al. Oral manifestation of Goltz-Gorlin syndrome in a young girl. Head Face Med 8, P8 (2012). https://doi.org/10.1186/1746-160X-8-S1-P8

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Keywords

  • Public Health
  • Multidisciplinary Approach
  • Maxillofacial Surgery
  • Young Female
  • Young Girl