George D. Ludwig, M.D., F.A.C.P.; Louis B. Chaykin, M.D.; Harold Lishner, M.D.
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Erythropoietic protoporphyria (EPP), first described in 1961 (Magnus and associates, Lancet 2: 448), is characterized by photocutaneous lesions, increased protoporphyrin in erythrocytes, plasma, and feces, with normal urinary porphyrin excretion. Only 33 authenticated cases have been described (Peterka and colleagues, JAMA 193: 1036, 1965); transmission by Mendelian dominant inheritance has been suggested (Haeger-Aronson, B., Amer. J. Med. 35: 450, 1963).
In this report, six patients with the disease, from four unrelated families, are described. Photocutaneous lesions consisted of prickling, burning, itching, and erythema, followed in some instances by edema, vesicles, eczema, or ecchymoses. Greatly elevated erythrocyte, plasma, and fecal protoporphyrin,
Ludwig GD, Chaykin LB, Lishner H. Erythropoietic Protoporphyria; a Chemical, Biochemical, and Genetic Study of Six Cases in Four Unrelated Families.. Ann Intern Med. 1966;64:1170–1171. doi: https://doi.org/10.7326/0003-4819-64-5-1170_3
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Published: Ann Intern Med. 1966;64(5):1170-1171.
Gastroenterology/Hepatology, Liver Disease.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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