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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Professional Medical Publications
2023
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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. |
format | Online Article Text |
id | pubmed-10480744 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Professional Medical Publications |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT zahoormaria epidermolysisbullosapruriginosaacasereportoftwofirstcousins |