Porphyria cutanea tarda

Diagnosis: Porphyria cutanea tarda

Porphyria cutanea tarda on the hands. Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.

Clinical Presentation

Porphyria cutanea tarda on the hands. Porphyria cutanea tarda can be inherited as a dominant trait or acquired due to liver disease. Sun exposed areas develop blistering (vesicles and bullae), erosions and ulcerations, fragile skin, pigmentary changes, and scarring.

Clinical History

Submitted by dermRounds Dermatology Network. Originally posted August 5, 2008.

Treatment

See case discussion.

Differential Diagnosis

• Pseudoporphyria (drug-induced) • Epidermolysis bullosa acquisita • Bullous pemphigoid • Dermatitis herpetiformis • Polymorphous light eruption • Solar urticaria

Key Learnings

• Most common porphyria — caused by deficient uroporphyrinogen decarboxylase (UROD) • Photosensitivity with skin fragility, vesicles, bullae on dorsal hands (sun-exposed) • "Catfacing" — milia and scarring on dorsal hands are characteristic • Hypertrichosis (especially temples/periorbital) is a common clue • Strongly associated with: hepatitis C, HIV, alcohol, estrogen use, iron overload, hemochromatosis • Wood lamp: coral-pink fluorescence of urine (elevated uroporphyrins) • Urine porphyrins confirm diagnosis — elevated uroporphyrins and heptacarboxylporphyrins • Treatment: phlebotomy (reduce iron) or low-dose hydroxychloroquine (mobilize porphyrins via urine)

Tags: porphyria, cutanea, tarda, dermrounds dermatology network