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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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Detalles Bibliográficos
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
Descripción
Sumario: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.