John H. Epstein, M.D., F.A.C.P.; Kirk D. Wuepper, M.D.
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Erythropoietic protoporphyria (EPP) is genodermatosis characterized chemically by the presence of abnormal amounts of protoporphyrin in the red blood cells, the plasma, and the feces and, clinically, by an almost pathognomonic photocutaneous syndrome.
Initially, the patients generally demonstrate a marked edema and, at times, eczematization confined to the sun-exposed areas. With repeated insults the skin becomes thickened, wrinkled, and leathery in appearance. Occasionally, urticarial and hydroa-like lesions are seen. The diagnosis is made from the clinical picture and confirmed by the detection chemically of abnormal amounts of protoporphyrine in the red blood cells. Recently, we have established that detection of
Epstein JH, Wuepper KD. Erythropoietic Protoporphyria Fluorescent Microscopic Evaluation.. Ann Intern Med. 1967;66:1058. doi: 10.7326/0003-4819-66-5-1058_2
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Published: Ann Intern Med. 1967;66(5):1058.
Gastroenterology/Hepatology, Liver Disease.
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