Chaponan-Lavalle Andres, Garcia Luis Guillermo Azanedo, Randich Karla Hernandez, Chaponan-Lavalle Yolanda, Ordaya-Gonzales Karina, Arriola-Montenegro Jose
Escuela de Medicina, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.
Escuela de Medicina, Universidad Científica del Sur, Lima, Peru.
J Family Med Prim Care. 2024 Nov;13(11):5407-5410. doi: 10.4103/jfmpc.jfmpc_844_24. Epub 2024 Nov 18.
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.
外胚层发育不良（ED）是一系列遗传性疾病，会损害外胚层结构（如头发、指甲和牙齿）的发育和功能。本病例报告描述了一名17岁男性，自幼头发稀疏且有认知障碍，童年时被诊断为ED。皮肤科、神经科和牙科的多学科评估揭示了其特征性临床特征，并通过钻孔活检确诊了组织病理学诊断。此外，ED带来的挑战不仅限于皮肤表现，还会影响认知功能、心理健康和营养状况。多学科管理、早期诊断和认知对于优化患者预后和探索潜在治疗方法至关重要。
