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Erythropoietic protoporphyria (EPP), a rare autosomal recessive metabolic disorder characterized by painful photosensitivity, typically presents in infancy, with crying after first exposure to sunlight. Swelling and redness and, with repeated exposure, thickened facial skin may develop. Severe neuropathic pain can last for days. Gallstones and cholestatic hepatitis occur in 5% of patients. Management includes protective garments, ultraviolet filters on windows, and sun avoidance. Medications, including beta carotene, have poor efficacy.
Afamelanotide, a human alpha-melanocyte-stimulating hormone analogue, increases epidermal eumelanin, which is photoprotective. Two multicenter, randomized, double-blind trials were performed in 167 EPP patie…