What is Porphyria cutanea tarda?

the most common subtype of porphyria, often presents with skin manifestations later in life

What are the main clinical features of Porphyria cutanea tarda?

• classically presents with photosensitive rash with blistering and skin fragility on the face and dorsal aspect of hands (most common feature)
• hypertrichosis
• hyperpigmentation

What are the investigations findings in Porphyria cutanea tarda?

• urine: elevated uroporphyrinogen and pink fluorescence of urine under Wood's lamp
• serum iron ferritin level is used to guide therapy

What is the management of Porphyria cutanea tarda?

• chloroquine
• venesection (if ferritin is above 600 ng/ml)

What is the pathophysiology of Porphyria cutanea tarda?

levels of the enzyme responsible for the fifth step in heme production (uroporphyrinogen decarboxylase)