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.

References

Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008; 3:32-47.

Safronova MM, Arantes M, Lima I, Domingues S, Almeida M, Moniz P. Síndrome de Gorlin-Goltz Revisão das Características Neurorradiológicas e Maxilofaciais Ilustradas Com Dois Casos. Acta Med Port 2010; 23:1119-26.

Ortega-García-de Amezaga A, García-Arregui O, Zepeda-Nuño S, Acha-Sagredo A, Aguirre-Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal 2008; 13:E338-43.

Berg D. Nevoid basal cell carcinoma syndrome. [Online] 2011 Sep 14, [Acedido em: 2012 Dec 12] Disponível em: URL: http://emedicine.medscape.com/article/1101146-overview.

Medeiros L, Ferreira JC. Síndrome de Gorlin-Goltz: revisão bibliográfi ca a propósito de um caso clínico. Rev Port Estomatol Cir Maxilofac 2006; 47:25-32.

Ljubenovic M, Ljubenovic D, Binic I, Jovanovic D, Stanojevic M. Gorlin-Goltz syndrome. Acta Dermatovenerol Alp Panonica Adriat 2007; 16:166-9.

Rosón-Gómez S, González-García R, Naval-Gías L, Sastre-Pérez J, Muñoz-Guerra MF, Díaz-González FJ. Síndrome de Gorlin-Goltz: Serie de 7 casos. Rev Esp Cir Oral Maxilofac 2009; 31:309-15.

Barankin B, Goldenberg G, Stern RS, Robinson JK. Nevoid basal cell carcinoma syndrome [Online] 2012. Oct 24, [Acedido em: 2012 Dec 15]. Disponível em: URL: http://www.uptodate.com/contents/nevoid-basal-cell-carcinomasyndrome/

Kalogeropoulou C, Zampakis P, Kazantzi S, Kraniotis P, Mastronikolis NS. Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident. Cases J 2009; 2:9087.

Evans DG, Farndon PA. Nevoid Basal Cell Carcinoma Syndrome. 2002 Jun 20 [Updated 2011 Nov 3]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Disponível em: http://www.ncbi.nlm.nih.gov/books/NBK1151/

Díaz-Fernández JM, Infante-Cossío P, Belmonte-Caro R, Ruiz-Laza L, García-Perla AG, Gutiérrez-Pérez JL. Síndrome névico basocelular. Presentación de seis casos y revisión de la literatura. Med Oral Patol Oral Cir Bucal 2005; 10: E57-66.

Choudry Q, Patel HC, Gurusinghe NT, Evans DG. Radiation induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst 2007; 23:133-6.

Veenstra-Knol HE, Scheewe JH, van der Vlist GJ, van Doorn ME, Ausems MG. Early recognition of basal cell naevus syndrome. Eur J Pediatr 2005; 164:126-30.

Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997; 69:299-308.

Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 1993; 30:460-4.

Published

2016-02-24

How to Cite

Domingues, S., Pereira, S., Machado, Ângela, Bezerra, R., Figueira, F., da Cunha, B., & Machado, L. (2016). Gorlin-Goltz syndrome: a case report. NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 23(2), 87–91. https://doi.org/10.25753/BirthGrowthMJ.v23.i2.8605

Issue

Section

Case Reports

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