Article
Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
European journal of dermatology : EJD - 1 Jan 2000
Morais Paulo, Mota Alberto, Baudrier Teresa, Trigo Filipe, Oliveira João Paulo, Cerqueira Rita, Palmeiro Aida, Tavares Purificação, Azevedo Filomena
Abstract excerpt
Erythropoietic protoporphyria (EPP) is a rare inherited disorder of heme biosynthesis mostly caused by a deficient activity of the enzyme ferrochelatase (FECH), and consequent accumulation of protoporphyrin (PP) in various tissues. Clinical manifestations include a childhood onset, cutaneous photosensitivity and, sometimes, hepatobiliary disease. We report a 16-year-old male with EPP characterized by acute...
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