Epidermolysis bullosa pruriginosa: A case report of two first cousins

Abstract

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. doi: https://doi.org/10.12669/pjms.39.5.6764 How to cite this: Zahoor M. Epidermolysis bullosa pruriginosa: A case report of two first cousins. Pak J Med Sci. 2023;39(5):---------.  doi: https://doi.org/10.12669/pjms.39.5.6764 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.