Keywords
Hepatic porphyrias
Erythropoietic porphyria
Heme
Child
Erythropoietic porphyria
Heme
Child
How to Cite
A clinical case of hepato-erythropoietic porphyria associated with type 1 diabetes mellitus. (2021). Archives of Pediatrics of Uruguay, 92(2), e307. https://doi.org/10.31134/ap.92.2.13
Abstract
Porphyria is a complex and heterogeneous group of heme synthesis disorder. Hepato-erythropoietic porphyria is a very rare subtype that onsets in childhood, and shows predominant skin involvement. We describe the clinical case of a 5-year-old patient who showed skin lesions and hypertrichosis and whose diagnosis was confirmed due to increased uroporphyrins in urine and UROD gene sequencing.
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2021 Verónica González, Cristina Zabala, Lucía Mastroianni, Ángela Cabrera, Aída Lemes