Article
Erythropoietic protoporphyria: spectrum of three cases.
Journal of cutaneous medicine and surgery - 1 Jan 2000
Bertrand Janie, Clarke Joe T R, Hanna Dominique
Abstract excerpt
BACKGROUND: Erythropoietic protoporphyria is a rare photodermatosis of childhood, and the diagnosis can be delayed. A deficient ferrochelatase enzyme leads to accumulation of protoporphyrins in the dermis, causing phototoxic burning. OBJECTIVE: To report three cases with great variability in severity of symptoms and age at diagnosis. We discuss clinical and biochemical findings, mutation analysis, and therapeutic...
Topics
- Adolescent
- Adult
- Child, Preschool
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- Ferrochelatase
- Humans
- Male
- Mutation
- Phenotype
- Porphyrins