A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome is a rare autosomal dominant disorder characterized by pulmonary cysts, renal tumors, and dermal lesions. This syndrome results from a mutation in the gene folliculin, located on chromosome 17p11.2. Herein, a case is described in which the presence of bilateral renal oncocyto...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-06-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043321001205 |
| _version_ | 1818384987900084224 |
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| author | Brian Covello, MD Sean Kaufman, MD Elizabeth Whittington, MD Orlando Enrizo, MD |
| author_facet | Brian Covello, MD Sean Kaufman, MD Elizabeth Whittington, MD Orlando Enrizo, MD |
| author_sort | Brian Covello, MD |
| collection | DOAJ |
| description | Birt-Hogg-Dube syndrome is a rare autosomal dominant disorder characterized by pulmonary cysts, renal tumors, and dermal lesions. This syndrome results from a mutation in the gene folliculin, located on chromosome 17p11.2. Herein, a case is described in which the presence of bilateral renal oncocytomas led to the diagnosis of Birt-Hogg-Dube syndrome via an interdisciplinary effort by radiology, pathology, and primary care medicine. No radiographic features alone are sufficient to confirm the diagnosis of Birt-Hogg-Dube. A high index of suspicion must be maintained by both the pathologist and radiologist in the appropriate clinical setting. |
| first_indexed | 2024-12-14T03:31:00Z |
| format | Article |
| id | doaj.art-04f75b8c4c1e43708cc9ac063a2cda29 |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-12-14T03:31:00Z |
| publishDate | 2021-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-04f75b8c4c1e43708cc9ac063a2cda292022-12-21T23:18:45ZengElsevierRadiology Case Reports1930-04332021-06-0116612491254A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndromeBrian Covello, MD0Sean Kaufman, MD1Elizabeth Whittington, MD2Orlando Enrizo, MD3Department of Interventional Radiology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USA; Corresponding author.Department of Pathology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USADepartment of Pathology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USADepartment of Interventional Radiology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USABirt-Hogg-Dube syndrome is a rare autosomal dominant disorder characterized by pulmonary cysts, renal tumors, and dermal lesions. This syndrome results from a mutation in the gene folliculin, located on chromosome 17p11.2. Herein, a case is described in which the presence of bilateral renal oncocytomas led to the diagnosis of Birt-Hogg-Dube syndrome via an interdisciplinary effort by radiology, pathology, and primary care medicine. No radiographic features alone are sufficient to confirm the diagnosis of Birt-Hogg-Dube. A high index of suspicion must be maintained by both the pathologist and radiologist in the appropriate clinical setting.http://www.sciencedirect.com/science/article/pii/S1930043321001205Birt-Hogg-Dube syndromeBilateral renal oncocytomas |
| spellingShingle | Brian Covello, MD Sean Kaufman, MD Elizabeth Whittington, MD Orlando Enrizo, MD A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome Radiology Case Reports Birt-Hogg-Dube syndrome Bilateral renal oncocytomas |
| title | A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome |
| title_full | A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome |
| title_fullStr | A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome |
| title_full_unstemmed | A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome |
| title_short | A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome |
| title_sort | case of bilateral renal oncocytomas in the setting of birt hogg dube syndrome |
| topic | Birt-Hogg-Dube syndrome Bilateral renal oncocytomas |
| url | http://www.sciencedirect.com/science/article/pii/S1930043321001205 |
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