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June 1975

Picture of the Month

Author Affiliations

From the Department of Pediatrics, American University of Beirut (Lebanon), School of Medicine.

Am J Dis Child. 1975;129(6):701-702. doi:10.1001/archpedi.1975.02120430041011

Denouement and Discussion 

Congenital Erythropoietic Porphyria 

Manifestations  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

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