Article
Severe neonatal congenital erythropoietic porphyria.
Pediatric dermatology - 1 Jan 2000
Hogeling Marcia, Nakano Taizo, Dvorak Christopher C, Maguiness Sheilagh, Frieden Ilona J
Abstract excerpt
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...
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