Congenital Erythropoietic Porphyria about a  succcessful evolution case

Diana Marcela Espitia-Hernandez; Nicolle Guiot-Isaac; Daniela Chaparro-Reyes; Carolina  Cortes-Correa; Elkin Peñaranda- Contreras

doi:10.5455/IJMRCR.172-1666107172

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Case Report

Online Publishing Date:
24 / 09 / 2023

Int J Med Rev Case Rep. 2023; 7(Reports in Microbiology, Infectious Diseases and Dermatology):

doi: 10.5455/IJMRCR.172-1666107172

Congenital Erythropoietic Porphyria about a succcessful evolution case

Diana Marcela Espitia-Hernandez , Nicolle Guiot-Isaac, Daniela Chaparro-Reyes, Carolina Cortes-Correa, Elkin Peñaranda- Contreras.

Abstract
BACKGROUND: Congenital erythropoietic porphyria is an extremely rare autosomal recessive disease. Caused by a deficiency of the enzymatic activity of uroporphyrinogen synthetase III (UROS), collect accumulation of porphyrins of the type I isomer and alterations in the synthesis of the heme group, responsible for the clinical manifestations, mainly cutaneous, hematological, ophthalmic and bone. Diagnosis is based on elevated levels of type I uroporphyrinogen in urine and fecal coproporphyrinogen and clinical findings.

CLINICAL CASE: This is a 31-year-old female patient who presented since childhood, multiple hyper and hypopigmented macules both on the back of the hands and on the face, slight destruction of the nasal cartilage, areas of scarring and perioral retraction, sclerodermiform changes, erythrodontia and marked retraction of the phalanges, who was diagnosed with congenital hematopoietic porphyria, who began conservative treatment, achieving an adequate evolution and clinical stability.

CONCLUSIONS: It is important to know the different manifestations of this disease to show a prompt diagnosis and avoid known progression, since despite being a rare disease, it can have high morbidity in untreated patients.

Key words: Porphyria, Erythropoietic, Porphyrins, Urobilinogen.

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How to Cite this Article

Pubmed Style

DME, Guiot-Isaac N, Chaparro-Reyes D, Cortes-Correa C, Contreras EP, . Congenital Erythropoietic Porphyria about a succcessful evolution case. Int J Med Rev Case Rep. Online First: 24 Sep, 2023. doi:10.5455/IJMRCR.172-1666107172

Web Style

DME, Guiot-Isaac N, Chaparro-Reyes D, Cortes-Correa C, Contreras EP, . Congenital Erythropoietic Porphyria about a succcessful evolution case. https://www.mdpub.net/?mno=122377 [Access: May 31, 2024]. doi:10.5455/IJMRCR.172-1666107172

AMA (American Medical Association) Style

DME, Guiot-Isaac N, Chaparro-Reyes D, Cortes-Correa C, Contreras EP, . Congenital Erythropoietic Porphyria about a succcessful evolution case. Int J Med Rev Case Rep. Online First: 24 Sep, 2023. doi:10.5455/IJMRCR.172-1666107172

Vancouver/ICMJE Style

DME, Guiot-Isaac N, Chaparro-Reyes D, Cortes-Correa C, Contreras EP, . Congenital Erythropoietic Porphyria about a succcessful evolution case. Int J Med Rev Case Rep, [cited May 31, 2024]; Online First: 24 Sep, 2023. doi:10.5455/IJMRCR.172-1666107172

Harvard Style

, D. M. E., Guiot-Isaac, N., Chaparro-Reyes, D., Cortes-Correa, C., Contreras, E. P. & (2023) Congenital Erythropoietic Porphyria about a succcessful evolution case. Int J Med Rev Case Rep, Online First: 24 Sep, 2023. doi:10.5455/IJMRCR.172-1666107172

Turabian Style

, Diana Marcela Espitia-Hernandez, Nicolle Guiot-Isaac, Daniela Chaparro-Reyes, Carolina Cortes-Correa, Elkin Peñaranda- Contreras, and . 2023. Congenital Erythropoietic Porphyria about a succcessful evolution case. International Journal of Medical Reviews and Case Reports, Online First: 24 Sep, 2023. doi:10.5455/IJMRCR.172-1666107172

Chicago Style

, Diana Marcela Espitia-Hernandez, Nicolle Guiot-Isaac, Daniela Chaparro-Reyes, Carolina Cortes-Correa, Elkin Peñaranda- Contreras, and . "Congenital Erythropoietic Porphyria about a succcessful evolution case." International Journal of Medical Reviews and Case Reports Online First: 24 Sep, 2023. doi:10.5455/IJMRCR.172-1666107172

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

, D. M. E., Guiot-Isaac, N., Chaparro-Reyes, D., Cortes-Correa, C., Contreras, E. P. & (2023) Congenital Erythropoietic Porphyria about a succcessful evolution case. International Journal of Medical Reviews and Case Reports, Online First: 24 Sep, 2023. doi:10.5455/IJMRCR.172-1666107172

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