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- Title
Severe Neonatal Congenital Erythropoietic Porphyria.
- Authors
Hogeling, Marcia; Nakano, Taizo; Dvorak, Christopher C.; Maguiness, Sheilagh; Frieden, Ilona J.
- 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.
- Subjects
CASE studies; PORPHYRIA; INFANTS; HEMOLYTIC anemia; PHOTOSENSITIVITY disorders; PULMONARY hypertension
- Publication
Pediatric Dermatology, 2011, Vol 28, Issue 4, p416
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/j.1525-1470.2010.01376.x