CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS

Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not see a case during his professional life. We pr...

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Detalles Bibliográficos
Autores principales: Koley, Sankha, Saoji, Vikrant
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088948/
https://www.ncbi.nlm.nih.gov/pubmed/21572804
http://dx.doi.org/10.4103/0019-5154.77565
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author Koley, Sankha
Saoji, Vikrant
author_facet Koley, Sankha
Saoji, Vikrant
author_sort Koley, Sankha
collection PubMed
description Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not see a case during his professional life. We present two cases of CEP. One child with CEP presented with typical infancy-onset blistering, photosensitivity, red urine, and erythrodontia, with hypertrichosis of the upper arms and back. The other child of CEP presented with childhood-onset blistering, mutilation, and hypertrichosis on the face.
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spelling pubmed-30889482011-05-13 CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS Koley, Sankha Saoji, Vikrant Indian J Dermatol Case Report Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not see a case during his professional life. We present two cases of CEP. One child with CEP presented with typical infancy-onset blistering, photosensitivity, red urine, and erythrodontia, with hypertrichosis of the upper arms and back. The other child of CEP presented with childhood-onset blistering, mutilation, and hypertrichosis on the face. Medknow Publications 2011 /pmc/articles/PMC3088948/ /pubmed/21572804 http://dx.doi.org/10.4103/0019-5154.77565 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 Case Report
Koley, Sankha
Saoji, Vikrant
CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS
title CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS
title_full CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS
title_fullStr CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS
title_full_unstemmed CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS
title_short CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS
title_sort congenital erythropoietic porphyria: two case reports
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088948/
https://www.ncbi.nlm.nih.gov/pubmed/21572804
http://dx.doi.org/10.4103/0019-5154.77565
work_keys_str_mv AT koleysankha congenitalerythropoieticporphyriatwocasereports
AT saojivikrant congenitalerythropoieticporphyriatwocasereports

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