We present two cases of hereditary benign telangiectasia (HBT) in which the genetic findings are compatible with an autosomal dominant hypothesis. The lesions persisted indefinitely for many years without effect on the general health of the patients. The term hereditary benign telangiectasia distinguishes the disorder from the more serious hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber). The etiology remains unknown. The condition causes only cosmetic disability and is not associated with any other diseases.
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http://dx.doi.org/10.1111/j.1346-8138.1992.tb03244.x | DOI Listing |
Front Oncol
January 2025
Endocrinology Unit, Garibaldi-Nesima Hospital, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Background: Multiple endocrine neoplasia type 2 syndrome (MEN2) is a hereditary disease resulting from mutations of the rearranged during transfection (RET) protooncogene subclassified into MEN2A [medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism] and MEN2B (MTC, pheochromocytoma, Marfanoid habitus, mucous neuromas, and intestinal ganglioneuromatosis). Prophylactic thyroidectomy is recommended in RET-mutated patients. The age at which it should be performed depends on the type and aggressiveness of the mutation.
View Article and Find Full Text PDFSurg Today
January 2025
Department of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Purpose: To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.
Methods: This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.
Results: We identified 36 women who underwent multigene panel testing: 8 (22.
Jpn J Radiol
January 2025
Department of Diagnostic Radiology, Institute of Science Tokyo, Bunkyo-ku, Tokyo, Japan.
Adrenal diseases pose significant diagnostic challenges due to the wide range of neoplastic and non-neoplastic pathologies. Radiologists have a crucial role in diagnosing and managing these conditions by, leveraging advanced imaging techniques. This review discusses the vital role of computed tomography (CT), magnetic resonance imaging (MRI), and nuclear medicine in adrenal imaging, and focuses on morphological and functional evaluations.
View Article and Find Full Text PDFJ Gastrointest Surg
January 2025
Department of Medical Genetics, Familial and Hereditary Cancers Institute, Tehran, Iran.
Background: Understanding the heterogeneity of a population at risk is an important step in the early detection of gastric cancer. This study aimed to cluster demographic, hematologic, and biochemical markers of gastric cancer in a heterogeneous sample of patients.
Methods: Data of 695 adult patients (50.
Ann Surg
January 2025
Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Objective: To investigate the clinicopathological features and long-term outcomes of cystic and solid pancreatic neuroendocrine tumors (PanNETs).
Summary Background Data: PanNETs uncommonly present as cystic lesions. Whether cystic PanNETs represent a distinct clinical entity compared to solid PanNETs is controversial.
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