von Hippel-Lindau disease
Neurocutaneous syndromes
Dx Gene testing for VHL gene (tumour suppressor gene)
Clinical features
Dx Gene testing for VHL gene (tumour suppressor gene)
Clinical features
- Hemangioblastomas of the brain (cerebellum) and spine
- Retinal capillary hemangioblastomas (retinal angiomas)
- Clear cell renal cell carcinomas (RCCs)
- Pheochromocytomas
- Endolymphatic sac tumors of the middle ear
- Serous cystadenomas and neuroendocrine tumors of the pancreas
- Papillary cystadenomas of the epididymis and broad ligament