Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis A case report with eight years follow-up


Autoria(s): Avila, Erica; Molon, Rafael; Gabrielli, Mario; Vieira, Eduardo Hochuli; Gabrielli, Marisa
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

06/08/2015

06/08/2015

2014

Resumo

Nevoid basal cell carcinoma (NBCCS) or Gorlin-Goltz syndrome (GS) is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT) that was enucleated. On presentation, the patient’s symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin.

Formato

1-4

Identificador

http://www.scopemed.org/?mno=43373

Archives of Clinical and Experimental Surgery, v. 1, p. 1-4, 2014.

2146-8133

http://hdl.handle.net/11449/125609

http://dx.doi.org/10.5455/aces.20140108034044

ISSN2146-8133-2014-01-01-04.pdf

6853485483683678

8029177169916525

8492596401380580

Idioma(s)

eng

Relação

Archives of Clinical and Experimental Surgery

Direitos

openAccess

Palavras-Chave #Basal cell nevus syndrome #Gorlin syndrome #Keratocyst odontogenic tumor #Sindrome de Gorlin #Diferencial diagnoses
Tipo

info:eu-repo/semantics/article