title: 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.affiliation: Department of Dermatology, University of California, San Francisco, California, USA. hogelingm@yahoo.ca
authors.forename: Marcia
authors.initials: M
authors.lastname: Hogeling
authors.forename: Taizo
authors.initials: T
authors.lastname: Nakano
authors.forename: Christopher C
authors.initials: CC
authors.lastname: Dvorak
authors.forename: Sheilagh
authors.initials: S
authors.lastname: Maguiness
authors.forename: Ilona J
authors.initials: IJ
authors.lastname: Frieden
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D016026:Bone Marrow Transplantation; D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D007223:Infant; D055370:Lung Injury / Q000139:chemically induced; D008297:Male; D009154:Mutation; D010787:Photosensitivity Disorders / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D017092:Porphyria, Erythropoietic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D012720:Severity of Illness Index; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics
chemical_list: D014576:Uroporphyrinogen III Synthetase