Porphyria Cutanea Tarda

Question 1

What is it?

Answer 1

Enzyme deficiency- reduced activity or uroporphyrinogen decarboxylase

Often in context of liver injury e.g. alcohol excess, HepB/C

Leads to accumulation of porphyrin in liver and skin causing photosensitivity and skin manifestations

Question 2

What are clinical features?

Answer 2

Dorsum of hands and neck= most commonly affected
Fragile, bruised skin
Photosensitive
Fluid or blood filled blisters
Skin can become sclerosed thickened and hard
Can see Milia

Question 3

What is the management?

Answer 3

Venesection if ferritin raised
Hydroxychloroquine are an alternvative