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Epidermolysis bullosa pruriginosa: A case report of two first cousins
1Dr. Maria Zahoor MSc Clinical Dermatology (University of Hertfordshire, UK) M.C.P.S (Paediatrics), M.B.B.S (Dow Medical College) Unit III, Department of Paediatric Medicine, National Institute of Child Health, Rafique S.J Shaheed Road, Karachi, 75510, Pakistan.
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.
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