Abstract
Anhidrotic ectodermal dysplasia is rare congenital disorder characterized by hypotrichosis, hypohidrosis, and tooth agenesis. We report on a patient with de novo anhidrotic ectodermal dysplasia who presented with complete absence of primary and permanent teeth. In addition, a misssense mutation leading to an amino acid substitution from arginine to histidine in position 156 of the ectodysplasin A gene, responsible for sex-linked inheritance, was identified. Our results are useful for genetic counseling, and future studies with various types of biological analyses are required to evaluate the activities of the ectodysplasin A gene activity, including other gene-gene interactions.
