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Tuberous sclerosis complex: a complex case.
Cold Spring Harb Mol Case Stud
April 2022
Department of Pathology, University of Otago, Dunedin 9016, New Zealand.
Tuberous sclerosis complex (TSC) is an inheritable disorder characterized by the formation of benign yet disorganized tumors in multiple organ systems. Germline mutations in the (hamartin) or more frequently (tuberin) genes are causative for TSC. The malignant manifestations of TSC, pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipoma (AML), may also occur as independent sporadic perivascular epithelial cell tumor (PEComa) characterized by somatic mutations.
View Article and Find Full Text PDFBirt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
BMC Med Genet
March 2020
Section of General Surgery and Gastrointestinal Surgery, Department of Surgery I, Faculdade de Medicina do ABC, Avenida Lauro Gomes, 2000, Santo André/São Paulo, CEP 09060-870, Brazil.
Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2.
View Article and Find Full Text PDFDuodenal angiomyolipoma with multiple systemic vascular malformations and aneurysms: A case report and literature review.
Oncol Lett
December 2017
Department of Oncology, Zhongnan Hospital of Wuhan University, Hubei Key Laboratory of Tumor Biological Behaviors and Hubei Cancer Clinical Study Center, Wuhan, Hubei 430071, P.R. China.
Angiomyolipomas (AMLs) are barely benign mesenchymal tumors that usually occur in the kidneys and may be associated with tuberous sclerosis complex (TSC). Extrarenal AMLs are markedly rare and infrequently observed in the duodenum. In the present case report, a 22-year-old female patient with duodenal AMLs presenting multiple systemic vascular malformations and aneurysms is described.
View Article and Find Full Text PDFBleeding renal angiomyolipoma presenting as duodenal obstruction.
Int Urol Nephrol
August 2013
Division of Urology, Department of Surgery, North District Hospital, Sheung Shui, New Territories, Hong Kong, China.
We report a case of a 60-year-old woman who had a delayed presentation of duodenal obstruction as a result of a bleeding right renal angiomyolipoma (AML) with retroperitoneal hematoma. Her duodenal obstruction did not improve upon conservative management, and a computed tomography (CT)-guided drainage of the retroperitoneal hematoma was subsequently performed. Post-intervention, CT scan confirmed hematoma resolution, and she was able to resume normal diet afterwards.
View Article and Find Full Text PDFLaparoscopic management of gastric angiomyolipoma: case report and review of literature.
Surg Laparosc Endosc Percutan Tech
February 2012
Department of Surgical Disciplines, All India Institute of Medical Sciences, New Delhi, India.
Angiomyolipoma of stomach is extremely rare. Only 1 case has been reported earlier. We report a case of 40-year-old female who presented with gastrointestinal bleeding.
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