Severe Neonatal Congenital Erythropoietic Porphyria
- 1 March 2011
- journal article
- case report
- Published by Wiley in Pediatric Dermatology
- Vol. 28 (4), 416-420
- https://doi.org/10.1111/j.1525-1470.2010.01376.x
Abstract
Congenital erythropoietic porphyria is a rare form of porphyria, presenting during the neonatal period or during infancy. Clinical features include photosensitive blistering and severe anemia. Wood's lamp fluorescence of the diaper is a useful screening test. We describe a severely affected neonate with systemic involvement due to a homozygous mutation. Because of ongoing severe hemolytic anemia and severe photosensitivity, bone-marrow transplantation was performed, but the patient ultimately succumbed to chemotherapy-induced lung damage, as well as severe pulmonary hypertension, likely due to his chronic hemolytic anemia.Keywords
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