Diagnostic Delay in Erythropoietic Protoporphyria.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30041937.
- Also identified by DOI 10.1016/j.jpeds.2018.06.001 and PMC identifier 6203604.
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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.
Medical subject headings
- Delayed Diagnosis
- Hypersensitivity
- Photosensitivity Disorders
- Protoporphyria, Erythropoietic