Matches in SemOpenAlex for { <https://semopenalex.org/work/W4231170460> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W4231170460 abstract "Erythropoietic protoporphyria (EPP) is a metabolic error in the biosynthesis of the heme group, the enzyme ferrochelatase (FEHC) deficiency culminates in the excessive accumulation of free protoporphyrin in erythroid cells, plasma, skin, and liver. The excess of this metabolite generates symptoms like skin pain, burning, pruritus during the sun exposure, that arise from this the childhood. This article reports the case of a 4-year and 6-month patient who, after prolonged sun exposure, opened a typical photosensitivity picture of erythropoietic protoporphyria. Erythema malar led to a misdiagnosis of cutaneous erythematosus lupus. EPP diagnosis was confirmed by the measurement of serum protoporphyria and corroborated by the genetic test that shows defect in the gene that transcribes the FEHC enzyme. The treatment is based on measures of photoprotection, recently medications such as afamelanotide and hematin have been shown to be effective for the control of the disease. In order to elucidate the difference between the diagnosis of cutaneous lupus and PPE, this article brings the clinical difference between these pathologies, in addition to the EPP laboratory diagnosis." @default.
- W4231170460 created "2022-05-11" @default.
- W4231170460 creator A5000789953 @default.
- W4231170460 creator A5033262447 @default.
- W4231170460 creator A5043841560 @default.
- W4231170460 creator A5052254062 @default.
- W4231170460 creator A5067156056 @default.
- W4231170460 date "2021-01-01" @default.
- W4231170460 modified "2023-10-14" @default.
- W4231170460 title "Erythropoeitic protoporphyria: clinical presentation in a child misdiagnosed as cutaneous lupus erythematosus" @default.
- W4231170460 doi "https://doi.org/10.25060/residpediatr-2021.v11n2-149" @default.
- W4231170460 hasPublicationYear "2021" @default.
- W4231170460 type Work @default.
- W4231170460 citedByCount "0" @default.
- W4231170460 crossrefType "journal-article" @default.
- W4231170460 hasAuthorship W4231170460A5000789953 @default.
- W4231170460 hasAuthorship W4231170460A5033262447 @default.
- W4231170460 hasAuthorship W4231170460A5043841560 @default.
- W4231170460 hasAuthorship W4231170460A5052254062 @default.
- W4231170460 hasAuthorship W4231170460A5067156056 @default.
- W4231170460 hasBestOaLocation W42311704601 @default.
- W4231170460 hasConcept C159654299 @default.
- W4231170460 hasConcept C16005928 @default.
- W4231170460 hasConcept C181199279 @default.
- W4231170460 hasConcept C185592680 @default.
- W4231170460 hasConcept C203014093 @default.
- W4231170460 hasConcept C2775915377 @default.
- W4231170460 hasConcept C2776217839 @default.
- W4231170460 hasConcept C2777799353 @default.
- W4231170460 hasConcept C2777940757 @default.
- W4231170460 hasConcept C2778417259 @default.
- W4231170460 hasConcept C2779028619 @default.
- W4231170460 hasConcept C2779121184 @default.
- W4231170460 hasConcept C2779480358 @default.
- W4231170460 hasConcept C2781149050 @default.
- W4231170460 hasConcept C55493867 @default.
- W4231170460 hasConcept C71924100 @default.
- W4231170460 hasConcept C75473681 @default.
- W4231170460 hasConceptScore W4231170460C159654299 @default.
- W4231170460 hasConceptScore W4231170460C16005928 @default.
- W4231170460 hasConceptScore W4231170460C181199279 @default.
- W4231170460 hasConceptScore W4231170460C185592680 @default.
- W4231170460 hasConceptScore W4231170460C203014093 @default.
- W4231170460 hasConceptScore W4231170460C2775915377 @default.
- W4231170460 hasConceptScore W4231170460C2776217839 @default.
- W4231170460 hasConceptScore W4231170460C2777799353 @default.
- W4231170460 hasConceptScore W4231170460C2777940757 @default.
- W4231170460 hasConceptScore W4231170460C2778417259 @default.
- W4231170460 hasConceptScore W4231170460C2779028619 @default.
- W4231170460 hasConceptScore W4231170460C2779121184 @default.
- W4231170460 hasConceptScore W4231170460C2779480358 @default.
- W4231170460 hasConceptScore W4231170460C2781149050 @default.
- W4231170460 hasConceptScore W4231170460C55493867 @default.
- W4231170460 hasConceptScore W4231170460C71924100 @default.
- W4231170460 hasConceptScore W4231170460C75473681 @default.
- W4231170460 hasIssue "2" @default.
- W4231170460 hasLocation W42311704601 @default.
- W4231170460 hasOpenAccess W4231170460 @default.
- W4231170460 hasPrimaryLocation W42311704601 @default.
- W4231170460 hasRelatedWork W1192589 @default.
- W4231170460 hasRelatedWork W12632686 @default.
- W4231170460 hasRelatedWork W16940292 @default.
- W4231170460 hasRelatedWork W18661933 @default.
- W4231170460 hasRelatedWork W2748689 @default.
- W4231170460 hasRelatedWork W3620037 @default.
- W4231170460 hasRelatedWork W4626772 @default.
- W4231170460 hasRelatedWork W6325248 @default.
- W4231170460 hasRelatedWork W7312514 @default.
- W4231170460 hasRelatedWork W8572169 @default.
- W4231170460 hasVolume "11" @default.
- W4231170460 isParatext "false" @default.
- W4231170460 isRetracted "false" @default.
- W4231170460 workType "article" @default.