Abstract
Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals.
Keywords:
photodermatoses; phototoxicity; porphyria.
Copyright © 2018 Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Child, Preschool
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Delayed Diagnosis*
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Diagnosis, Differential
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Female
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Humans
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Hypersensitivity / diagnosis*
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Male
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Photosensitivity Disorders / diagnosis*
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Photosensitivity Disorders / therapy
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Prognosis
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Protective Clothing
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Protoporphyria, Erythropoietic / diagnosis*
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Protoporphyria, Erythropoietic / therapy
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Recurrence
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Risk Assessment
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Severity of Illness Index
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Sunlight / adverse effects