Severe Neonatal Congenital Erythropoietic Porphyria
Article first published online: 1 MAR 2011
© 2011 Wiley Periodicals, Inc.
Volume 28, Issue 4, pages 416–420, July/August 2011
How to Cite
Hogeling, M., Nakano, T., Dvorak, C. C., Maguiness, S. and Frieden, I. J. (2011), Severe Neonatal Congenital Erythropoietic Porphyria. Pediatric Dermatology, 28: 416–420. doi: 10.1111/j.1525-1470.2010.01376.x
- Issue published online: 24 JUL 2011
- Article first published online: 1 MAR 2011
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.