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Pediatr Dermatol. 2011 Jul-Aug;28(4):416-20. doi: 10.1111/j.1525-1470.2010.01376.x. Epub 2011 Mar 1.

Severe neonatal congenital erythropoietic porphyria.

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  • 1Department of Dermatology, University of California, San Francisco, California, USA. hogelingm@yahoo.ca

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.

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