Otorhinolaryngologic Manifestations in Hypohidrotic Ectodermal Dysplasia
摘要
Hypohidrotic ectodermal dysplasia (HED) [1, 2] is a rare genetic disorder that affects the development of ectodermal structures such as hair, teeth, and sweat glands. The condition is caused by mutations in the EDA gene, which provides instructions for making a protein called ectodysplasin-A [3]. The absence or reduced levels of this protein can lead to various physical manifestations, including ear, nose, and throat (ENT) abnormalities [4].