This site is intended for healthcare professionals

account_circleSign in
Go to /sign-in page

You can view 5 more pages before signing in

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

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page