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

Radiographic and clinical spectrum

Neurological (CNS)

• 
  focal areas of signal intensity in deep grey/white matter ⁵
  
• 
  optic nerve glioma (manifest with enlarged optic foramen)
  
• 
  progressive sphenoid wing dysplasia
  
• 
  lambdoid suture defects
  
• 
  dural calcification at vertex
  
• 
  moya moya phenomenon - rare
  
• 
  buphthalmos
  

Cutaneous

• 
  café au lait spots
  
• 
  neurofibromas of cutaneous and subcutaneous peripheral nerves and nerve roots
  

Skeletal

• 
  kyphoscoliosis
  
• 
  posterior vertebral scalloping
  
• 
  hypoplastic posterior elements
  
• 
  enlarged neural foramina
  
• 
  ribbon rib deformity
  
• 
  rib notching
  
• 
  dural ectasia
  
• 
  tibial pseudoarthrosis or less commonly ulnar pseudoarthrosis
  
• 
  limb hemi hypertrophy 
  

Chest

• 
  mediastinal masses   
  
  • 
    neurofibroma
    
  • 
    lateral thoracic meningocoeles : typically on convex side of scoliosis (through widened neural formina)
    
  • 
    extra adrenal pheochromocytoma
    
• 
  lung parenchymal disease: ~ 20%
  
  • 
    diffuse interstitial fibrosis : lower zone
    
  • 
    bullae formation: upper zone
    
  • 
    secondary pulmonary arterial hypertension and cor pulmonale
    

Vascular

• 
  aneurysms / arteriovenous malformations (AVM)
  
• 
  renal artery stenosis (RAS)
  
• 
  coarctation of aorta
  

Breast

• 
  neurofibromatosis of the breast
  

Treatment and prognosis

No single treatment exists, and a combination of supportive and surgical therapies are employed depending on the specific tumours and anomalies present. 

Although prognosis is very variable, overall patients with neurofibromatosis type I have a life expectancy approximately half that of non affected individuals, usually succumbing to tumours or cardiovascular complications ⁸.