Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review

    May 2025 in “ Clinical Medicine Insights Case Reports ”
    Muhammad Salman Aamir, Fahad Faizullah, Malik Waleed Zeb Khan, Touba Azeem, Muhammad Awais Khan
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    TLDR Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
    This document presents three pediatric cases of Kindler Syndrome (KS), a rare genetic disorder, highlighting the phenotypic diversity and diagnostic challenges in resource-limited settings. The cases involve a 6-year-old boy from Pakistan, a 6-year-old boy, and a 4-year-old girl from India, all exhibiting unique dermatological and systemic features such as erythematous plaques, blistering, photosensitivity, and glucose intolerance. The reports emphasize the importance of clinical evaluation, genetic counseling, and a multidisciplinary approach to management, including antibiotics, supportive care, and nutritional rehabilitation. The need for low-cost genetic screening tools is also highlighted to improve diagnostic accuracy in settings with limited resources.
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