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Erythropoietic Protoporphyria


Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the plasma, red blood cells, and the liver. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the skin may become itchy and red. Affected individuals may also experience a burning sensation on their skin. The hands, arms, and face are the most commonly affected areas. Some people with erythropoietic protoporphyria may also have complications related to liver and gallbladder function. Erythropoietic protoporphyria is inherited as an autosomal dominant genetic trait. Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes. There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. It is important to note that people who have one type of porphyria do not develop any of the other types. (NORD/G. Eysenbach)


Erythropoietic Protoporphyria, Protoporphyria Erythropoetica


EPP, EPP - Erythropoietic protoporphyria, EPP-Erythropoietic protoporphy, Erythrohepatic protoporphyria, Erythropoietic Protoporphyria, Erythropoietic Protoporphyrias, Heme synthase deficiency, Hydroa aestivale syndrome, Magnus syndrome, Magnus' syndrome, Protoporhyria, Protoporphyria erythropoietic, Protoporphyria, Erythropoietic, Protoporphyrias, Erythropoietic


1 image found for this diagnose
localisation: digital metacarpo-phalangeal joint, diagnosis: Erythropoietic Protoporphyria