Clinical features

These include:

• skin manifestations:
  • vesicles and bullae which may contain a pink fluorescent fluid and become secondarily infected
  • scarring
  • excessive lanugo hair
  • irregular hypo- and hyper-pigmentation
  • cicatrical alopecia of the scalp
    
    
• mutilating deformities of hands, ears, face and nose sclerodermoid changes;
  
  
• urine which is burgundy red as passed or that becomes red upon exposure to light
  
  
• haemolytic anaemia
  
  
• splenomegaly
  
  
• erythrodontia - red stained teeth
  
  
• eye changes:
  • photophobia
  • keratoconjunctivitis
  • ectropion
  • occasionally, blindness
    
    
• shortened erythrocyte life span - 36 days vs. 120 days
  
  
• fragile teeth and bones - due to deposited porphyrins