A case of erythropoietic protoporphyria
Kathryn Lindsey1, Micah Burch1, John R Krause1
1Department of Pathology, University of South Carolina, Charleston (Lindsey); and the Departments of Hematology/Oncology (Burch) and Pathology (Krause), Baylor University Medical Center at Dallas and Baylor Sammons Cancer Center, Dallas, Texas.
Abstract:
A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts. Serum, plasma, and erythrocyte protoporphyrin levels were elevated, the findings of which are consistent with a diagnosis of erythropoietic protoporphyria. This paper discusses the diagnosis and etiology of the porphyrias.
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