Severe neonatal congenital erythropoietic porphyria

Pediatr Dermatol. 2011 Jul-Aug;28(4):416-20. doi: 10.1111/j.1525-1470.2010.01376.x. Epub 2011 Mar 1.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Uroporphyrinogen III Synthetase