The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus
The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Cirurgia Plástica
2016-12-01
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| Series: | Revista Brasileira de Cirurgia Plástica |
| Subjects: | |
| Online Access: | http://www.rbcp.org.br/export-pdf/1800/en_v31n4a22.pdf |
| _version_ | 1797419411974389760 |
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| author | João Paulo Nunes Drumond Bruna Bianca Allegro Wilson Roberto Sendyk Fabiana Martins e Martins de Oliveira |
| author_facet | João Paulo Nunes Drumond Bruna Bianca Allegro Wilson Roberto Sendyk Fabiana Martins e Martins de Oliveira |
| author_sort | João Paulo Nunes Drumond |
| collection | DOAJ |
| description | The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems. |
| first_indexed | 2024-03-09T06:46:58Z |
| format | Article |
| id | doaj.art-1b5f20313d8b4b838b0318cbacad0b34 |
| institution | Directory Open Access Journal |
| issn | 1983-5175 2177-1235 |
| language | English |
| last_indexed | 2024-03-09T06:46:58Z |
| publishDate | 2016-12-01 |
| publisher | Sociedade Brasileira de Cirurgia Plástica |
| record_format | Article |
| series | Revista Brasileira de Cirurgia Plástica |
| spelling | doaj.art-1b5f20313d8b4b838b0318cbacad0b342023-12-03T10:33:26ZengSociedade Brasileira de Cirurgia PlásticaRevista Brasileira de Cirurgia Plástica1983-51752177-12352016-12-01310457858210.5935/2177-1235.2016RBCP0095The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitusJoão Paulo Nunes Drumond0Bruna Bianca Allegro1Wilson Roberto Sendyk2Fabiana Martins e Martins de Oliveira3Faculdade de Medicina, Universidade de Santo Amaro, São Paulo, SP, BrazilDepartamento de Radiologia e Diagnóstico por Imagem, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, BrazilPrograma de Pós-Graduação em Odontologia, Universidade de Santo Amaro, São Paulo, SP, BrazilPrograma de Pós-Graduação em Odontologia, Universidade de Santo Amaro, São Paulo, SP, BrazilThe Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.http://www.rbcp.org.br/export-pdf/1800/en_v31n4a22.pdfbasal cell nevus syndromehypertelorismmacrocephalybuccal pathologyhypertrophic cardiomyopathy |
| spellingShingle | João Paulo Nunes Drumond Bruna Bianca Allegro Wilson Roberto Sendyk Fabiana Martins e Martins de Oliveira The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus Revista Brasileira de Cirurgia Plástica basal cell nevus syndrome hypertelorism macrocephaly buccal pathology hypertrophic cardiomyopathy |
| title | The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus |
| title_full | The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus |
| title_fullStr | The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus |
| title_full_unstemmed | The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus |
| title_short | The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus |
| title_sort | gorlin goltz syndrome diagnosis of a case associated with heart disease and type 2 diabetes mellitus |
| topic | basal cell nevus syndrome hypertelorism macrocephaly buccal pathology hypertrophic cardiomyopathy |
| url | http://www.rbcp.org.br/export-pdf/1800/en_v31n4a22.pdf |
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