Severe neonatal congenital erythropoietic porphyria

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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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Erythropoietic Porphyria
Hemolytic Anemia
Porphyrias
Bone Marrow Transplantation
Pulmonary Hypertension
Anemia
Fluorescence
Newborn Infant
Drug Therapy
Lung
Mutation

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Severe neonatal congenital erythropoietic porphyria. / Hogeling, Marcia; Nakano, Taizo; Dvorak, Christopher C.; Maguiness, Sheilagh; Frieden, Ilona J.

In: Pediatric Dermatology, Vol. 28, No. 4, 01.07.2011, p. 416-420.

Research output: Contribution to journalArticle

Hogeling, M, Nakano, T, Dvorak, CC, Maguiness, S & Frieden, IJ 2011, 'Severe neonatal congenital erythropoietic porphyria', Pediatric Dermatology, vol. 28, no. 4, pp. 416-420. https://doi.org/10.1111/j.1525-1470.2010.01376.x
Hogeling, Marcia ; Nakano, Taizo ; Dvorak, Christopher C. ; Maguiness, Sheilagh ; Frieden, Ilona J. / Severe neonatal congenital erythropoietic porphyria. In: Pediatric Dermatology. 2011 ; Vol. 28, No. 4. pp. 416-420.
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