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Epidermolysis bullosa pruriginosa: A case report of two first cousins

Genodermatoses are quite frequent in developing countries where consanguinity is common but are usually under reported and undiagnosed. Main reason being lack of accessibility to tertiary health care facilities for people of rural areas as evident in case below. Genetic counselling and pre natal tes...

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Autor principal: Zahoor, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480744/
https://www.ncbi.nlm.nih.gov/pubmed/37680848
http://dx.doi.org/10.12669/pjms.39.5.6764
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author Zahoor, Maria
author_facet Zahoor, Maria
author_sort Zahoor, Maria
collection PubMed
description Genodermatoses are quite frequent in developing countries where consanguinity is common but are usually under reported and undiagnosed. Main reason being lack of accessibility to tertiary health care facilities for people of rural areas as evident in case below. Genetic counselling and pre natal testing is of utmost importance in affected families. Epidermolysis bullosa pruriginosa (EBP) is a rare and less recognized variant of dystrophic epidermolysis bullosa. Reporting the case of two first cousins who presented with intensely pruritic skin lesions since infancy along with the history of siblings with skin problems. EBP provided a unifying diagnosis.
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spelling pubmed-104807442023-09-07 Epidermolysis bullosa pruriginosa: A case report of two first cousins Zahoor, Maria Pak J Med Sci Case Report Genodermatoses are quite frequent in developing countries where consanguinity is common but are usually under reported and undiagnosed. Main reason being lack of accessibility to tertiary health care facilities for people of rural areas as evident in case below. Genetic counselling and pre natal testing is of utmost importance in affected families. Epidermolysis bullosa pruriginosa (EBP) is a rare and less recognized variant of dystrophic epidermolysis bullosa. Reporting the case of two first cousins who presented with intensely pruritic skin lesions since infancy along with the history of siblings with skin problems. EBP provided a unifying diagnosis. Professional Medical Publications 2023 /pmc/articles/PMC10480744/ /pubmed/37680848 http://dx.doi.org/10.12669/pjms.39.5.6764 Text en Copyright: © Pakistan Journal of Medical Sciences https://creativecommons.org/licenses/by/3.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0 (https://creativecommons.org/licenses/by/3.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Zahoor, Maria
Epidermolysis bullosa pruriginosa: A case report of two first cousins
title Epidermolysis bullosa pruriginosa: A case report of two first cousins
title_full Epidermolysis bullosa pruriginosa: A case report of two first cousins
title_fullStr Epidermolysis bullosa pruriginosa: A case report of two first cousins
title_full_unstemmed Epidermolysis bullosa pruriginosa: A case report of two first cousins
title_short Epidermolysis bullosa pruriginosa: A case report of two first cousins
title_sort epidermolysis bullosa pruriginosa: a case report of two first cousins
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480744/
https://www.ncbi.nlm.nih.gov/pubmed/37680848
http://dx.doi.org/10.12669/pjms.39.5.6764
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