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Expert Shares Challenging Cases From Stanford


 

EPP is the most common type of porphyria in children. It presents between the ages of 1 and 6 years, and symptoms include burning, stinging, redness, and edema, which all occur after sun exposure. The condition is caused by a deficiency of ferrochelatase, which leads to accumulation of protoporphyrin IX. Treatment involves sun avoidance, sunscreens, and beta-carotene 30–150 mg/day.

Scaly plaque is shown on the right lower extremity of the boy with linear porokeratosis. After a course of imiquimod, he opted outof therapy, but his condition is still closely monitored.

Papules, plaques are seen on knuckles of the girl with erythropoietic protoporphyria. Photos courtesy Dr. Anna L. Bruckner

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