Open AccessErythropoeitic protoporphyria: clinical presentation in a child misdiagnosed as cutaneous lupus erythematosus
Author(s) -
Charles Marques Lourenço,
Rafael Bogas,
Ricardo Calvo,
Ygor Brasil,
Zumira Aparecida Carneiro
Publication year - 2021
Publication title -
residência pediátrica
Language(s) - English
Resource type - Journals
ISSN - 2236-6814
DOI - 10.25060/residpediatr-2021.v11n2-149
Subject(s) - erythropoietic protoporphyria , ferrochelatase , protoporphyrin , dermatology , medicine , porphyria , lupus erythematosus , erythema , acute intermittent porphyria , immunology , heme , enzyme , biology , biochemistry , porphyrin , antibody
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.