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

Abdominal 

• 
  renal angiomyolipoma(s)
  
  • 
    TS accounts for 20% of all AMLs ⁴
    
  • 
    AML's seen in 55-75% of patient with TS
    
  • 
    tend to be multiple, large, bilateral.
    
  • 
    tend to grow and require surgical treatment, as the probability of haemorrhage is proportional to the size
    
  • 
    micro and macro aneurysms may be present ⁴
    
  • 
    fat may not be visible in up to 4.5% ⁶
    
• 
  renal cysts : the TSC2 gene is located adjacent to the PCKD1 gene ⁴
  
  • 
    18-53% of patients with TS ⁶
    
• 
  renal cell carcinoma and oncocytomas
  
  • 
    although rates of RCC are the same as in the general population, in patients with tuberous sclerosis RCCs tend to occur at a younger age ⁶
    
• 
  retroperitoneal lymphangiomyomatosis 
  
  • 
    histologically identical to pulmonary LAM
    
  • 
    retroperitoneal cystic lesions
    
  • 
    chylous ascites, enlarged lymph nodes, dilatation of thoracic duct
    
• 
  gastrointestinal polyps
  

Thoracic

• 
  lymphangiomyomatosis (LAM)
  
  • 
    rare (1%)
    
  • 
    some have studies have described lymphangiomyomatosis-like change to be present in 25 - 40% of female patients with TS
    
  • 
    indistinguishable from sporadic LAM
    
  • 
    pneumothorax and chylous pleural effusions common
    
  • 
    79% 10 year survival
    
• 
  multifocal micronodular pneumocyte hyperplasia (MMPH)
  
  • 
    rare
    
  • 
    characterized by multicentric well demarcated nodular proliferations of type II pneumocytes
    
  • 
    benign, non-progressive
    
  • 
    differential diagnoses : miliary pulmonary opacities
    
• 
  cardiac rhabdomyomas
  
  • 
    benign striated muscle tumour characterized by the presence of spider cells
    
  • 
    seen in 50-65% of patients with TS
    
  • 
    40-80% of patients with cardiac rhabdomyomas have TS
    
  • 
    multiple or single
    
  • 
    typically involve the ventricular septum
    
  • 
    occur before the age of 1 year (75% of cases) ⁶
    
  • 
    typically regress before birth with spontaneous regression in 70% of children by age 4
    
• 
  thoracic duct and aortic/pulmonary artery aneurysm
  

Musculoskeletal

• 
  sclerotic bone lesions : 40-66% ⁶
  
• 
  hyperostosis of inner table of calvaria
  
• 
  periosteal new bone
  
• 
  scoliosis
  
• 
  bone cysts ⁵
  

Skin

Cutaneous lesions are present in  approximately 96% of cases ⁷

• 
  hypo pigmented macules (ash leaf spots) : seen in 90% patients ⁶
  
• 
  facial angiofibromas (Pringle nodules or adenoma sebaceum) : seen in 75% of patients
  
• 
  fibrous plaques of the forehead (15-20%)
  
• 
  confetti lesions : variant of leukoderma spots
  
• 
  shagreen patches : seen in 20-30% of patients
  
• 
  periungual fibroma (Koenen tumours) : 20% patients