Gorlin-Goltz syndrome: a case report

Authors

  • Sara Domingues Paediatric Service, Unidade Padre Américo, Centro Hospitalar Tâmega e Sousa
  • Sandra Pereira Paediatric Service, Unidade Padre Américo, Centro Hospitalar Tâmega e Sousa
  • Ângela Machado Paediatric Service, Unidade Padre Américo, Centro Hospitalar Tâmega e Sousa
  • Rui Bezerra Stomatology Service, Unidade Padre Américo, Centro Hospitalar Tâmega e Sousa
  • Fernando Figueira Stomatology Service, Unidade Padre Américo, Centro Hospitalar Tâmega e Sousa
  • Braga da Cunha Paediatric Service, Unidade Padre Américo, Centro Hospitalar Tâmega e Sousa
  • Leonilde Machado Paediatric Service, Unidade Padre Américo, Centro Hospitalar Tâmega e Sousa

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v23.i2.8605

Keywords:

Basal cell carcinoma, basal cell nevus syndrome, Gorlin syndrome, macrocephaly, medulloblastoma, multiple basal cell nevi, keratocysts, pits

Abstract

Introduction: The Gorlin-Goltz syndrome is a rare autosomal dominant inherited condition characterized by: basal cell carcinomas, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. Medulloblastoma and other tumors are also associated with it.

Case report: An 11-year-old female, with a history of macrocephaly, was referred to the Stomatology Department for recurrent mandibular cyst. Histopathological exam revealed odontogenic keratocysts, so the patient was referred to the Pediatric Department. Physical examination revealed macrocephaly and coarse face, with frontal bossing and hypertelorism. The genetic study performed detected a mutation in PTCH1 gene, confirming the clinical suspicion.

Discussion: Odontogenic keratocysts are the most representative fi nding in Gorlin-Goltz Syndrome in the fi rst two decades of life, therefore a high suspicion level is mandatory among pediatricians concerning detection of minor changes. After the diagnosis, a multidisciplinary team is required for adequate follow-up and timely treatment.

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Published

2016-02-24

How to Cite

1.
Domingues S, Pereira S, Machado Ângela, Bezerra R, Figueira F, da Cunha B, Machado L. Gorlin-Goltz syndrome: a case report. REVNEC [Internet]. 2016Feb.24 [cited 2024Nov.9];23(2):87-91. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/8605

Issue

Vol. 23 No. 2 (2014)

Section

Case Reports

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