Severe neonatal congenital erythropoietic porphyria.

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.

• Authors: Marcia Hogeling, Taizo Nakano, Christopher C Dvorak, Sheilagh Maguiness, Ilona J Frieden
• Journal: Pediatric dermatology (Pediatr Dermatol) 2011 Jul-Aug Vol. 28 Issue 4 Pg. 416-20 ISSN: 1525-1470 [Electronic] United States
• PMID: 21362030 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2011 Wiley Periodicals, Inc.

Chemical References

• Uroporphyrinogen III Synthetase

Topics

• Anemia, Hemolytic, Congenital (diagnosis, enzymology, genetics, therapy)
• Bone Marrow Transplantation
• Fatal Outcome
• Homozygote
• Humans
• Hypertension, Pulmonary (enzymology, etiology, genetics)
• Infant
• Lung Injury (chemically induced)
• Male
• Mutation
• Photosensitivity Disorders (enzymology, genetics, therapy)
• Porphyria, Erythropoietic (complications, diagnosis, genetics, therapy)
• Severity of Illness Index
• Uroporphyrinogen III Synthetase (genetics)