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External Access > PubMed LinkOut
ISSN Number: 1203-4754
Title: Journal of Cutaneous Medicine and Surgery
Volume Number: 16
Issue Number: 05
Page Number: 311
Published: 6 time(s) per Year

Erythropoietic Protoporphyria: Spectrum of Three Cases

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 options.Methods:We report three cases with different degrees of photosensitivity, laboratory results, psychosocial impact, and preventive and therapeutic treatments.Results:The diagnosis of erythropoietic protoporphyria was confirmed by both typical elevation of plasma porphyrins and the discovery of a mutated FECH gene.Conclusion:Erythropoietic protoporphyria should be suspected in any cases of childhood photosensitivity. Systemic complications are unusual. Mutation analysis confirms the diagnosis. Photoprotection is the cornerstone of treatment.
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