Zahoor Maria
Dr. 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.
Pak J Med Sci. 2023 Sep-Oct;39(5):1545-1547. doi: 10.12669/pjms.39.5.6764.
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.
遗传性皮肤病在近亲结婚普遍的发展中国家相当常见，但通常报告不足且未得到诊断。主要原因是农村地区的人们难以获得三级医疗保健设施，如下例所示。遗传咨询和产前检测对受影响的家庭至关重要。痒疹性大疱性表皮松解症（EBP）是营养不良性大疱性表皮松解症的一种罕见且较少被认识的变体。报告了两个自幼就出现剧烈瘙痒性皮肤病变的堂兄弟的病例，以及他们有皮肤问题的兄弟姐妹的病史。EBP提供了一个统一的诊断。
