Results 1 to 10 of about 5,631,965 (202)

Case report: Von Hippel-Lindau syndrome with multisystem involvement: a therapeutic dilemma [PDF]

Frontiers in Oncology
We present a rare case of von Hippel-Lindau (VHL) syndrome type 2B, characterized by multisystem involvement including Stanford type B aortic dissection, pheochromocytoma, renal cell carcinoma (RCC), cerebellar hemangioblastoma with obstructive ...
Shuai He, Shuai He, Cong Wang, Cong Wang, Jing Yang, Juan Shen, Xiaozhu Zeng, Jun Zheng, Jun Zheng, Yongquan Wang, Yongquan Wang   +10 more
doaj   +4 more sources

Risk Analysis of Retinal Hemangioblastomas in Nonadvanced Stages of von Hippel–Lindau Syndrome Using Ultra-widefield Imaging: The ULTRA von Hippel–Lindau Study [PDF]

Ophthalmology Science
Purpose: To investigate the longitudinal progression, risk factors, and complications associated with retinal hemangioblastomas (RHs) in nonadvanced stages of von Hippel–Lindau (VHL) syndrome using ultra-widefield (UWF) imaging.
Sebastiano Del Fabbro, MD, Maria Vittoria Cicinelli, MD, Rosangela Lattanzio, MD, Soufiane Bousyf, MD, Lorenza Bruno, MD, Alessio Antropoli, MD, Lorenzo Bianco, MD, Elena Bruschi, MD, Alessandro Arrigo, MD, Giovanni Pipitone, MD, Francesco Cei, MD, Lucia Salerno, MD, Alessandro Larcher, MD, Andrea Salonia, MD, Francesco Bandello, MD, Maurizio Battaglia Parodi, MD   +15 more
doaj   +4 more sources

Von Hippel-Lindau Syndrome [PDF]

Hormone Research in Paediatrics, 2015
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours.
Iwona Beń-Skowronek
exaly   +4 more sources

A Review of Von Hippel-Lindau Syndrome

Journal of Kidney Cancer and VHL, 2017
Von Hippel-Lindau syndrome (VHL) is a familial neoplastic condition seen in approximately 1 in 36,000 live births. It is caused by germline mutations of the tumor suppressor gene VHL, located on the short arm of chromosome 3.
Neha Varshney, Amanuel A Kebede, Harry Owusu-Dapaah, Jason Lather, Manu Kaushik, Jasneet Singh Bhullar   +5 more
doaj   +4 more sources

Photocoagulation for retinal hemangioblastoma in Von Hippel-Lindau disease [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2023
Introduction. Von Hippel–Lindau disease is a hereditary, autosomal dominant, tumor syndrome with a predisposition to developing various benign and malignant tumors. Retinal hemangioblastoma is often the presenting manifestation.
Vasilijević Jelena, Pantelić Jelica, Mirković Jelena, Al Barri Leila, Kovačević Igor   +4 more
doaj   +1 more source

Sporadic Intradural Extramedullary Hemangioblastoma Not Associated with von Hippel-Lindau Syndrome: A Case Report and Literature Review

대한영상의학회지, 2021
Hemangioblastomas are low-grade, highly vascular tumors that are usually associated with von Hippel-Lindau syndrome. Hemangioblastomas most commonly occur in the cerebellum, and intradural extramedullary hemangioblastoma of the cauda equina is very ...
Mi-Kyung Um, Eugene Lee, Joon Woo Lee, Kyu Sang Lee, Yusuhn Kang, Joong Mo Ahn, Heung Sik Kang   +6 more
doaj   +1 more source

Aggressive retinal hemangioblastoma with scleral penetration in Von-Hippel-Lindau syndrome

Indian Journal of Ophthalmology. Case Reports, 2021
Retinal hemangioblastoma is associated with Von-Hippel–Lindau syndrome. Here, we report the case of a 50-year-old man who had a retinal hemangioblastoma that penetrated the sclera and presented as an extra-ocular mass.
Ferzana Mohammed, Sandya Somasundaran, Jyothi Poothatta, Suma Unnikrishnan   +3 more
doaj   +1 more source

Laparoscopic Adrenalectomy in a Patient of Von Hippel Lindau Syndrome with Ventriculo-Peritoneal Shunt-Anaesthetic management [PDF]

Journal of Clinical and Diagnostic Research, 2014
Von Hippel Lindau (VHL) syndrome has a predilection to manifest multiple haemangioblastomas in the retina and central nervous system. We report a rare case of raised intracranial pressure during bilateral laparoscopic adrenalectomy for pheochromocytoma ...
Nagaraj Channappa Mungasuvalli, Vinayak Seenappa Pujari, Jithendra Chinnappa, Sadasivan Shanker Iyer, Prathima Padavarahalli Thammanna   +4 more
doaj   +1 more source

Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease

Frontiers in Oncology, 2023
We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could
Raffaele Scafa, Maurizio Merico, Alfonso Massimiliano Ferrara, Sara Watutantrige Fernando, Pava Srsen, Francesca Schiavi, Stefania Zovato, Alberto Ferlin, Alberto Ferlin   +8 more
doaj   +1 more source

Von Hippel‐Lindau Syndrome

Brain Pathology, 1995
After a decade of intensive clinical and molecular genetic efforts the von Hippel‐Lindau (VHL) gene was cloned in 1993. The open reading frame encodes the putative protein of 284 amino acids. A large number of different mutations have been identified so far, including single base mutations, deletions, rearrangements and more complex mutations.
Neumann, Hartmut P. H., Lips, Cornells J. M., Hsia, Y. Edward, Zbar, Berton   +3 more
openaire   +3 more sources