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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

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