Gorlin-Goltz Syndrome: Diagnosis and Treatment Options

Authors

  • João Mendes-Abreu Serviço de Estomatologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal. http://orcid.org/0000-0002-1225-5778
  • Miguel Pinto-Gouveia Serviço de Dermatologia e Venereologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal. http://orcid.org/0000-0003-0983-1858
  • Cátia Tavares-Ferreira Serviço de Anestesiologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
  • Ana Brinca Serviço de Dermatologia e Venereologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
  • Ricardo Vieira Serviço de Dermatologia e Venereologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal. Departamento de Dermatologia. Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal.

DOI:

https://doi.org/10.20344/amp.7521

Keywords:

Basal Cell Nevus Syndrome/diagnosis, Basal Cell Nevus Syndrome/therapy

Abstract

The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients.

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Published

2017-05-31

How to Cite

1.
Mendes-Abreu J, Pinto-Gouveia M, Tavares-Ferreira C, Brinca A, Vieira R. Gorlin-Goltz Syndrome: Diagnosis and Treatment Options. Acta Med Port [Internet]. 2017 May 31 [cited 2024 Mar. 28];30(5):418-21. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7521

Issue

Section

Case Report