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Case Report Open Access


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

Erica Dorigatti de-Avila, Rafael Scaf de-Molon, Mario Francisco Real Gabrielli, Eduardo Hochuli-Vieira, Marisa Aparecida Cabrini Gabrielli.

Abstract
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.

Key words: Basal cell nevus syndrome, Gorlin syndrome, keratocyst odontogenic tumor


 
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How to Cite this Article
Pubmed Style

de-Avila ED, de-Molon RS, Gabrielli MFR, Hochuli-Vieira E, Gabrielli MAC. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up. Arch Clin Exp Surg. 2015; 4(1): 49-53. doi:10.5455/aces.20140108034044


Web Style

de-Avila ED, de-Molon RS, Gabrielli MFR, Hochuli-Vieira E, Gabrielli MAC. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up. http://www.acesjournal.org/?mno=43373 [Access: January 19, 2018]. doi:10.5455/aces.20140108034044


AMA (American Medical Association) Style

de-Avila ED, de-Molon RS, Gabrielli MFR, Hochuli-Vieira E, Gabrielli MAC. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up. Arch Clin Exp Surg. 2015; 4(1): 49-53. doi:10.5455/aces.20140108034044



Vancouver/ICMJE Style

de-Avila ED, de-Molon RS, Gabrielli MFR, Hochuli-Vieira E, Gabrielli MAC. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up. Arch Clin Exp Surg. (2015), [cited January 19, 2018]; 4(1): 49-53. doi:10.5455/aces.20140108034044



Harvard Style

de-Avila, E. D., de-Molon, R. S., Gabrielli, M. F. R., Hochuli-Vieira, E. & Gabrielli, M. A. C. (2015) Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up. Arch Clin Exp Surg, 4 (1), 49-53. doi:10.5455/aces.20140108034044



Turabian Style

de-Avila, Erica Dorigatti, Rafael Scaf de-Molon, Mario Francisco Real Gabrielli, Eduardo Hochuli-Vieira, and Marisa Aparecida Cabrini Gabrielli. 2015. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up. Archives of Clinical and Experimental Surgery (ACES), 4 (1), 49-53. doi:10.5455/aces.20140108034044



Chicago Style

de-Avila, Erica Dorigatti, Rafael Scaf de-Molon, Mario Francisco Real Gabrielli, Eduardo Hochuli-Vieira, and Marisa Aparecida Cabrini Gabrielli. "Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up." Archives of Clinical and Experimental Surgery (ACES) 4 (2015), 49-53. doi:10.5455/aces.20140108034044



MLA (The Modern Language Association) Style

de-Avila, Erica Dorigatti, Rafael Scaf de-Molon, Mario Francisco Real Gabrielli, Eduardo Hochuli-Vieira, and Marisa Aparecida Cabrini Gabrielli. "Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up." Archives of Clinical and Experimental Surgery (ACES) 4.1 (2015), 49-53. Print. doi:10.5455/aces.20140108034044



APA (American Psychological Association) Style

de-Avila, E. D., de-Molon, R. S., Gabrielli, M. F. R., Hochuli-Vieira, E. & Gabrielli, M. A. C. (2015) Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up. Archives of Clinical and Experimental Surgery (ACES), 4 (1), 49-53. doi:10.5455/aces.20140108034044





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