Diagnostic Delay in Erythropoietic Protoporphyria

Sajel M. Lala; Hetanshi Naik; Manisha Balwani

doi:10.1016/j.jpeds.2018.06.001

Diagnostic Delay in Erythropoietic Protoporphyria

Sajel M. Lala, Hetanshi Naik, Manisha Balwani

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

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.

Original language	English
Pages (from-to)	320-323.e2
Journal	Journal of Pediatrics
Volume	202
DOIs	https://doi.org/10.1016/j.jpeds.2018.06.001
State	Published - Nov 2018

Keywords

photodermatoses
phototoxicity
porphyria

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10.1016/j.jpeds.2018.06.001

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title = "Diagnostic Delay in Erythropoietic Protoporphyria",

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",

author = "Lala, {Sajel M.} and Hetanshi Naik and Manisha Balwani",

note = "Publisher Copyright: {\textcopyright} 2018 Elsevier Inc.",

year = "2018",

month = nov,

doi = "10.1016/j.jpeds.2018.06.001",

language = "English",

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journal = "Journal of Pediatrics",

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AU - Lala, Sajel M.

AU - Naik, Hetanshi

AU - Balwani, Manisha

PY - 2018/11

Y1 - 2018/11

N2 - 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.

AB - 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.

KW - photodermatoses

KW - phototoxicity

KW - porphyria

UR - http://www.scopus.com/inward/record.url?scp=85049305278&partnerID=8YFLogxK

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DO - 10.1016/j.jpeds.2018.06.001

M3 - Article

C2 - 30041937

AN - SCOPUS:85049305278

SN - 0022-3476

VL - 202

SP - 320-323.e2

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Diagnostic Delay in Erythropoietic Protoporphyria

Abstract

Keywords

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