A Case of Congenital Erythropoietic Porphyria without Hemolysis

Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and...

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Autores principales: De, Arun K, Das, Kallol, Sil, Archan, Joardar, Swarnali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
E-Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778801/
https://www.ncbi.nlm.nih.gov/pubmed/24082206
http://dx.doi.org/10.4103/0019-5154.117336
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author De, Arun K
Das, Kallol
Sil, Archan
Joardar, Swarnali
author_facet De, Arun K
Das, Kallol
Sil, Archan
Joardar, Swarnali
author_sort De, Arun K
collection PubMed
description Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. Here, we describe a case of CEP with infancy onset blistering, photosensitivity, red colored urine and teeth along with scarring but without any feature of hemolysis.
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spelling pubmed-37788012013-09-30 A Case of Congenital Erythropoietic Porphyria without Hemolysis De, Arun K Das, Kallol Sil, Archan Joardar, Swarnali Indian J Dermatol E-Case Report Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. Here, we describe a case of CEP with infancy onset blistering, photosensitivity, red colored urine and teeth along with scarring but without any feature of hemolysis. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3778801/ /pubmed/24082206 http://dx.doi.org/10.4103/0019-5154.117336 Text en Copyright: © Indian Journal of Dermatology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle E-Case Report
De, Arun K
Das, Kallol
Sil, Archan
Joardar, Swarnali
A Case of Congenital Erythropoietic Porphyria without Hemolysis
title A Case of Congenital Erythropoietic Porphyria without Hemolysis
title_full A Case of Congenital Erythropoietic Porphyria without Hemolysis
title_fullStr A Case of Congenital Erythropoietic Porphyria without Hemolysis
title_full_unstemmed A Case of Congenital Erythropoietic Porphyria without Hemolysis
title_short A Case of Congenital Erythropoietic Porphyria without Hemolysis
title_sort case of congenital erythropoietic porphyria without hemolysis
topic E-Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778801/
https://www.ncbi.nlm.nih.gov/pubmed/24082206
http://dx.doi.org/10.4103/0019-5154.117336
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