Abstract
Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects structures derived from the ectoderm during embryonic development. These structures include the outermost layer of the primary germ layers, which give rise to various body parts such as the ears, eyes, lips, and mucous membranes of the nose and mouth. Due to the impact on these structures, hypohidrotic ectodermal dysplasia can manifest differently in various age groups. However, the three primary characteristics typically associated with this condition are hypotrichosis, hypohidrosis, and hypodontia or anodontia. Here, we present a case of a male infant, aged 2 months, who was brought to our attention due to symptoms of unexplained fever and irritability. The child's family history was noteworthy, as an older sibling had distinctive features of ectodermal dysplasia. This information led us to consider the possibility of this diagnosis. This case report aims to highlight the distinctive features of such cases that facilitate the identification of this condition and its related complications. By sharing this case, we intend to raise awareness and encourage timely detection, diagnosis, and proper treatment of patients with this condition.