Ectodermal dysplasia (ED) is a spectrum of inherited disorders that compromise the development and function of ectodermal structures, like hair, nails, and teeth. This case report describes a 17-year-old male with sparse hair and cognitive difficulties who was diagnosed with ED in childhood. A multidisciplinary evaluation with dermatology, neurology, and dentistry revealed characteristic clinical features, and the histopathological diagnosis was confirmed via punch biopsy. Also, ED poses challenges beyond dermatologic manifestations, affecting cognitive function, psychological well-being, and nutrition. Multidisciplinary management, early diagnosis, and awareness are crucial for optimizing patient outcomes and exploring potential therapies.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668417PMC
http://dx.doi.org/10.4103/jfmpc.jfmpc_844_24DOI Listing

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