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Erythropoietic Protoporphyria (EPP)

Porphyria are a group of inherited disorders characterized by an increased production of porphyrins. Caused by enzyme deficiencies or defects, EPP results from a deficiency in the enzyme FeC, allowing porphyrins to accumulate in bone marrow and plasma. Typical onset is in childhood, marked by extreme sensitivity to sun exposure, and occasionally, artificial light greater than 400 nm. Redness, swelling, purpura and skin crusting may develop and persist for days. Gallstones are common, as is abdominal pain and intestinal disturbances.