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Congenital erythropoietic porphyria

Also known as Gunther disease, this is a severe, mutilating porphyria of infancy, distinguished by red urine and hemolytic anemia.

Epidermolysis bullosa acquisita

EBA is an autoimmune blistering disease that also presents with skin fragility and blisters in trauma-prone areas, but it is distinguished by the absence of porphyrin abnormalities in the urine.

Phototoxic drug reaction

This is an acute blistering reaction to a drug and sunlight, which resolves upon stopping the drug, unlike the chronic metabolic disorder of PCT.

Polymorphic light eruption

PLE is an itchy, papular eruption after sun exposure, which does not feature the skin fragility, blisters, or hypertrichosis of PCT.

Pseudoporphyria

This is a condition that perfectly mimics PCT clinically (blisters, fragility) but is distinguished by having normal porphyrin levels; it is often drug-induced (e.g., by NSAIDs).

Variegate porphyria

This is another porphyria that can cause skin lesions like PCT, but it is distinguished by its additional acute, life-threatening neurovisceral attacks (e.g., abdominal pain, paralysis).

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