Phakomatoses are a group of neurocutaneous disorders characterised by involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin and eyes). Other organs may also be involved

Treatment and prognosis

Treatment of seizures is essential and depending on the degree of intellectual disability, supportive care may be required. Treatment will be dictated by individual manifestations (e.g. subependymal giant cell astrocytomas, or retroperitoneal haemorrhage from renal angiomyolipoma). 

Approximately 40% of patients die by age 35 from complications of one or more of the above mentioned manifestations ⁶. 


Von Hippel-Lindau (vHL) disease is a multi-system disorder characterised by the development of numerous benign and malignant tumours (at least 40 types¹), as well as several non-malignant lesions. 

Patients may develop some or all of the various lesions which include

• 
  phaeochromocytoma(s)
  
• 
  CNS haemangioblastoma(s)
  
  • 
    cerebellar : ~ 75 %
    
  • 
    spinal : ~ 25 %
    
• 
  retinal haemangioblastoma(s)
  
• 
  choroid plexus papilloma (CPP)
  
• 
  endolymphatic sac tumours (ELST)
  
• 
  numerous pancreatic lesions (may be the earliest manifestion ³) 
  
  • 
    pancreatic cysts
    
  • 
    pancreatic islet cell tumours
    
  • 
    microcystic adenoma(s) of pancreas
    
  • 
    pancreatic adenocarcinoma : rare
    
• 
  renal lesions
  
  • 
    renal cell carcinoma(s) : usually of the clear cell type ⁷; can occur in up to 40% of cases and is one of the most feared complications ; RCC's present at an earlier age in those with vHL
    
  • 
    renal cysts : can occur in up to 75% of cases ⁵ ; often tend to be bilateral and multiple
    
  • 
    renal angiomyolipoma(s)
    
• 
  liver cysts
  
• 
  papillary cystadenoma(s) of the epididymis