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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Hogeling M,Nakano T,Dvorak CC,Maguiness S,Frieden IJ

doi

10.1111/j.1525-1470.2010.01376.x

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

416-20

issue

4

eissn

0736-8046

issn

1525-1470

journal_volume

28

pub_type

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