Résumé de la maladie
26/05/14 07:15
Hippel-Lindau (VHL)
rare
autosomal-dominant
multisystem
multiple benign and malignant neoplasms
loss of a tumor suppression gene on chromosome 3.
Ophtalmo
earliest manifestation: visual disturbances, (retinal angiomas (hemangioblastomas). This can be complicated by retinal detachment and vitreous hemorrhage.
SNC
multiple cerebellar and spinal hemangioblastomas: have a cystic component and peritumoral edema can lead to hydrocephalus, with patients presenting with headaches.
endolymphatic sinus tumors.
ABDO
benign cysts in the pancreas and kidneys
close surveillance to detect
renal cell carcinomas
heochromocytomas
pancreatic neuroendocrine tumors
papillary cystadenomas of the epididymis
The most common cause of death
renal cell carcinoma
neurological complications of cerebellar hemangioblastomas.
rare
autosomal-dominant
multisystem
multiple benign and malignant neoplasms
loss of a tumor suppression gene on chromosome 3.
Ophtalmo
earliest manifestation: visual disturbances, (retinal angiomas (hemangioblastomas). This can be complicated by retinal detachment and vitreous hemorrhage.
SNC
multiple cerebellar and spinal hemangioblastomas: have a cystic component and peritumoral edema can lead to hydrocephalus, with patients presenting with headaches.
endolymphatic sinus tumors.
ABDO
benign cysts in the pancreas and kidneys
close surveillance to detect
renal cell carcinomas
heochromocytomas
pancreatic neuroendocrine tumors
papillary cystadenomas of the epididymis
The most common cause of death
renal cell carcinoma
neurological complications of cerebellar hemangioblastomas.