Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up
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...
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| Format: | Article |
| Language: | English |
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GESDAV
2015-02-01
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| Series: | Archives of Clinical and Experimental Surgery |
| Subjects: | |
| Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=43373 |
| _version_ | 1828022633680076800 |
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| author | Erica Dorigatti de-Avila Rafael Scaf de-Molon Mario Francisco Real Gabrielli Eduardo Hochuli-Vieira Marisa Aparecida Cabrini Gabrielli |
| author_facet | Erica Dorigatti de-Avila Rafael Scaf de-Molon Mario Francisco Real Gabrielli Eduardo Hochuli-Vieira Marisa Aparecida Cabrini Gabrielli |
| author_sort | Erica Dorigatti de-Avila |
| collection | DOAJ |
| description | 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. [Arch Clin Exp Surg 2015; 4(1.000): 49-53] |
| first_indexed | 2024-04-10T12:12:21Z |
| format | Article |
| id | doaj.art-636dc70b4d454f91a540d22822db6879 |
| institution | Directory Open Access Journal |
| issn | 2146-8133 |
| language | English |
| last_indexed | 2024-04-10T12:12:21Z |
| publishDate | 2015-02-01 |
| publisher | GESDAV |
| record_format | Article |
| series | Archives of Clinical and Experimental Surgery |
| spelling | doaj.art-636dc70b4d454f91a540d22822db68792023-02-15T16:15:55ZengGESDAVArchives of Clinical and Experimental Surgery2146-81332015-02-0141495310.5455/aces.2014010803404443373Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-upErica Dorigatti de-Avila0Rafael Scaf de-Molon1Mario Francisco Real Gabrielli2Eduardo Hochuli-Vieira3Marisa Aparecida Cabrini Gabrielli4Univ Estadual Paulista - UNESP Univ Estadual Paulista - UNESP Univ Estadual Paulista - UNESP Univ Estadual Paulista - UNESP Univ Estadual Paulista - UNESPNevoid 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. [Arch Clin Exp Surg 2015; 4(1.000): 49-53]http://www.scopemed.org/fulltextpdf.php?mno=43373Basal cell nevus syndromeGorlin syndromekeratocyst odontogenic tumor |
| spellingShingle | Erica Dorigatti de-Avila Rafael Scaf de-Molon Mario Francisco Real Gabrielli Eduardo Hochuli-Vieira 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 Basal cell nevus syndrome Gorlin syndrome keratocyst odontogenic tumor |
| title | Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up |
| title_full | Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up |
| title_fullStr | Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up |
| title_full_unstemmed | Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up |
| title_short | Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up |
| title_sort | gorlin syndrome importance of clinical signs and danger of delayed diagnosis a case report with eight years follow up |
| topic | Basal cell nevus syndrome Gorlin syndrome keratocyst odontogenic tumor |
| url | http://www.scopemed.org/fulltextpdf.php?mno=43373 |
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