Abstract
Von Hippel-Lindau (VHL) is an inherited neoplasia syndrome caused by inactivation of the VHL tumor suppressor gene, characterized by the development of sporadic clear cell renal carcinoma, pheochromocytomas, retinal angioma, pancreatic cysts, and CNS hemangioblastomas. Glomeruloid hemangioma is a vascular lesion, previously considered to be specifically associated with POEMS (polyneuropathy, organomegaly, endocrinopathy/edema, M-protein and skin abnormalities) syndrome. However, there are reports of solitary glomeruloid hemangioma in patients without POEMS syndrome. We report the case of a 39-year-old male with VHL disease, with known bilateral clear cell renal carcinomas, CNS hemangioblastoma and pancreatic cysts. The patient presented with a0.35 cmred papule on the left lateral neck, which was easily irritated, and bleed frequently. Histopathologically, there were irregular areas of ectatic vascular channels of small capillaries, resembling renal glomeruli, surrounded by actin-positive pericytes, within the dermis. These findings were consistent with a glomeruloid hemangioma. Fluorescent in-situ hybridization studies confirmed a deletion in the 3p25.3 region. As per clinical tests, no evidence of POEMS syndrome was found in this patient. Only six reports of glomeruloid hemangioma have been previously reported in patients without POEMS syndrome and this constitutes the first report of glomeruloid hemangioma in a patient with VHL.
Highlights
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant hereditary disorder with variable expression and multi-organ manifestations including hemangioblastoma of the retina and central nervous system, pancreatic cysts, pheochromocytoma/paraganglioma, renal cysts and renal cell carcinoma (RCC) [1]
Von Hippel-Lindau (VHL) is an inherited neoplasia syndrome caused by inactivation of the VHL tumor suppressor gene, characterized by the development of sporadic clear cell renal carcinoma, pheochromocytomas, retinal angioma, pancreatic cysts, and CNS hemangioblastomas
We report the case of a 39-year-old male with VHL disease, with known bilateral clear cell renal carcinomas, CNS hemangioblastoma and pancreatic cysts
Summary
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant hereditary disorder with variable expression and multi-organ manifestations including hemangioblastoma of the retina and central nervous system, pancreatic cysts, pheochromocytoma/paraganglioma, renal cysts and renal cell carcinoma (RCC) [1]. The responsible gene of VHL disease was identified in 1993 on the short arm of chromosome 3 [2,3,4]. POEMS (polyneuropathy, organomegaly, endocrinepathy/edema, M-protein and skin abnormalities) syndrome, which was first reported in 1968, is a multisystem disease [5]. Glomeruloid hemangiomas are benign vascular tumors comprised by dilated vascular spaces filled by aggregates of small capillary vessels, morphologically resembling renal glomeruli. This lesion was first introduced as a distinctive vascular proliferation occurring in patients with POEMS syndrome [6]
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