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J Pediatr. 2018 Nov;202:320-323.e2. doi: 10.1016/j.jpeds.2018.06.001. Epub 2018 Jul 2.

Diagnostic Delay in Erythropoietic Protoporphyria.

Author information

1
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
2
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: manisha.balwani@mssm.edu.

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

PMID:
30041937
PMCID:
PMC6203604
DOI:
10.1016/j.jpeds.2018.06.001
[Indexed for MEDLINE]
Free PMC Article

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