Denouement and Discussion
Congenital Erythropoietic Porphyria
Major manifestations include urinary excretion of large amounts of uroporphyrin 1, disfiguring skin lesions, and hemolytic anemia. The disease has a wide racial distribution. Onset of symptoms is usually between birth and age 5 years. The combination of dark port-wine urine, vesiculobullous skin lesions, hemolytic anemia, normoblastic hyperplasia of the bone marrow, erythrodontia, and red fluorescence of the teeth, urine, and erythrocytes when examined under ultraviolet light is unique to this disease.Congenital erythropoietic porphyria and the other forms of porphyria are the result of a metabolic defect in heme biosynthesis. The metabolic defect is thought to be either an imbalance between porphobilinogen deaminase, also
Gellis SS, Feingold M, Idriss ZH, Najjar SS, Der Kaloustian VM, Shamaa AR. Picture of the Month. Am J Dis Child. 1975;129(6):701–702. doi:10.1001/archpedi.1975.02120430041011
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