A Case of Erythropoietic Protoporphyria. Issue 3 (1st July 2016)

• Record Type: Journal Article
• Authors: Lindsey, Kathryn; Burch, Micah; Krause, John R.
• Is Part Of: Proceedings. Volume 29:Issue 3(2016)
• Page Start: 311
• Page End: 312
• Publication Date: 2016-07-01
• Subjects: Medicine -- Periodicals; Medicine; Medicine -- Periodicals; Periodicals; Electronic journals; 616.005
• DOI: 10.1080/08998280.2016.11929448
• Languages: English
• ISSNs: 0899-8280

Abstract

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.