clinical features
Last reviewed 01/2018
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