Severe neonatal congenital erythropoietic porphyria

Marcia Hogeling, Taizo Nakano, Christopher C. Dvorak, Sheilagh Maguiness, Ilona J. Frieden

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)416-420
Number of pages5
JournalPediatric Dermatology
Volume28
Issue number4
DOIs
StatePublished - Jul 1 2011

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