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Pol. Merkur. Lekarski · Aug 2017
Editorial Review[Gastroenterological manifestations of von Hippel-Lindau disease].
- Joanna Koniusz, Krzysztof Dąbkowski, Katarzyna Buczek, Aleksandra Gomółka, and Teresa Starzyńska.
- Department of Gastroenterology, Pomeranian Medical University, Szczecin, Poland; Department of General, Vascular and Transplantation Surgery, Marie Curie Hospital, Szczecin, Poland.
- Pol. Merkur. Lekarski. 2017 Aug 21; 43 (254): 53-55.
AbstractVon Hippel-Lindau disease is rare autosomal dominant disorder that results from mutation of VHL gene. Typical manifestations of this syndrome include haemangioblastomas of retina, cerebellum and spinal cord, endolymphatic sac tumors, clear cell cancer and kidney cysts, pheochromocytoma, pancreatic cysts and neuroendocrine tumors. The differential diagnosis of pancreatic lesions in patients with von Hippel Lindau syndrome plays an important role. The pancreas in VHL disease is not only site of benign lesions (cysts, serous systic adenomas) but also of potentially malignant (neuroendocrine) and malignant tumors(metastases).The gastroenterological manifestations can be the first symptoms of von Hippel-Lindau disease.
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