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

2023, Vol: 7, Issue: 6

7 / 6Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Copyright Transfer Form

« Previous Article

Case Report

Online Publishing Date:
24 / 09 / 2023

Int J Med Rev Case Rep. 0; 0(0):

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.

	ARTICLE TOOLS
	Abstract
	How to cite this article
	Citation Tools
	Related Records
	Articles by Diana Marcela Espitia-Hernandez Articles by Nicolle Guiot-Isaac Articles by Daniela Chaparro-Reyes Articles by Carolina Cortes-Correa Articles by Elkin Peñaranda- Contreras
	on Google
	on Google Scholar

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: April 04, 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 April 04, 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. & (0) 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 . 0. 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. & (0) 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

About International Journal of Medical Reviews and Case Reports

International Journal of Medical Reviews and Case Reports (Int J Med Rev Case Rep)ISSN: 2534-9821The International Journal of Medical Reviews and Ca ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Any correspondence, queries or additional requests for information on the manuscript submission process should be sent to the International Journal of Medical Reviews and Case Reports editorial office as follows:

Bulgarian Association of Young Surgeons (BAYS);

National Center of Public Health and Analyses (NCPHA), floor 2, office № 31, Sofia 1431, Bulgaria.

inkov@journalmedica.com

Financial department is managed by International Sci Ink Press.

It is a company registered in Bulgaria with registered no. 205414288 and registered address at 57 Antim I str., Vazrazhdane, Sofia, 1303, Bulgaria.

Tel: +359883427500

About International Journal of Medical Reviews and Case Reports

Contact Information

How to cite this article