Erythropoietic Protoporphyria (EPP)

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Erythropoietic Protoporphyria is estimated to have a frequency of 1:75,000 to 1:200,000 in some Western European populations.  EPP is inherited as an autosomal dominant disorder of porphyrin-heme metabolic with a cutaneous and systemic manifestation. During infancy or childhood, the first noticeable signs of EPP are the skin symptoms.   EPP can cause liver complications, because of the excess protoporphyrins.

Symptoms:

• Skin turns red during or after an exposure to sunlight - even through windows.
• Swelling, burning, itching, and discoloration of the skin
• Burning often associated with erythema and edema
• Waxy, weather-beaten, or cobblestone skin texture
• Increase or decrease in red blood cells with red fluorescence in the bone marrow
• Liver complications

The skin symptoms occur mostly on the dorsal surfaces of the hands, face, and ears. The symptoms result after an exposure to a few minutes of sunlight or by repeated exposure day after day.  EPP skin symptoms usually go away in 24 hours, although sometimes they can last for several days and can be very painful. Afterwards the skin returns to normal.  Sometime minor skin lesions may occur. The liver complication can be  more severe. The protoporphyrins deposited in the liver can have a toxic effect on the liver that can lead to a life threatening hepatic dysfunction.