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Von Hippel-Lindau Disease [PDF]
Hereditary Cancer in Clinical Practice, 2005 A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar
Hes Frederik J +3 more
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Von Hippel–Lindau Disease [PDF]
Journal of Pediatric Genetics, 2016 Von Hippel-Lindau disease is an autosomal dominant syndrome which occurs secondary to germline mutations in the VHL tumor suppressor gene, located on chromosome 3. Clinically von Hippel-Lindau disease is characterized by an increased risk of developing simple visceral cysts, most commonly in the pancreas and kidneys, in addition to an increased risk of
Kelly McMahon +2 more
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Indian Journal of Ophthalmology, 1988 Von Hippel Lindan disease is a rare congenital vascular malformation afflicting the retinal and central nervous system blood vessels. A boy aged 12 years suffering from this angiomatosis with bilateral involvement was examined.
Khare M, Varma Rajan
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A Case of Von Hippel Lindau Disease [PDF]
Medical Journal Armed Forces India, 2007 Ayoung recruit presented with weakness of right lower limb, which was diagnosed as a case of Von Hippel Lindau (VHL) disease. It is a rare disease which causes central nervous system and other visceral neoplasm/ cysts.
S, Bhargava, A, Rao, A, Mishra
exaly +3 more sources
Bilateral papillary cystadenoma of the broad ligament: a manifestation of Von Hippel–Lindau disease: a case report [PDF]
Journal of Medical Case ReportsBackground While papillary cystadenomas of the epididymis are relatively common, the occurrence of papillary cystadenomas in female individuals, particularly in the ovaries, remains exceedingly rare.
Haifa Bergaoui +10 more
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Von Hippel-Lindau Disease and the Eye
Journal of Ophthalmic & Vision Research, 2020 Retinal hemangioblastoma (also referred to as retinal capillary hemangioma) is a benign lesion originating from the endothelial and glial components of the neurosensory retina and optic nerve head.
Saeed Karimi +3 more
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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 +4 more
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Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient
Boletín Médico del Hospital Infantil de México, 2021 Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies.
Paulina M. Núñez-Martínez +6 more
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Von Hippel–Lindau disease [PDF]
, 2015 von Hippel-Lindau (VHL) disease is an inheritable condition with an incidence of 1 in 36000 live births. Individuals with VHL develop benign and malignant tumors including retinal and central nervous system hemangioblastomas, clear cell renal cell carcinomas (RCC), pheochromocytomas, pancreatic neuroendocrine tumors and endolymphatic sac tumors (ELSTs).
Prashant, Chittiboina, Russell R, Lonser
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Double peeling and endolaser ablation for retinal detachment in von Hippel-Lindau disease
American Journal of Ophthalmology Case Reports, 2022 Purpose: To describe a successful surgical approach to macula-off retinal detachment in von Hippel-Lindau disease. Observations: A 28-year-old male with a history of von Hippel-Lindau disease presented to us with significant worsening of vision in his ...
Felipe Mallmann, Marcelo Krieger Maestri
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