2011 Volume 73 Issue 3 Pages 229-232
We report on a 5-month-old boy whose hair, eyebrows, and eyelashes have been almost absent since he was born. He has often suffered from unidentified fever and sinusitis since 14th days after birth, and his hair growth has remained sparse. He also exhibits characteristic facial features, such as prominent lower jaw and forehead, a saddle nose, and thick protrusive lips. Moreover, only one tooth was recognized on a face X-ray. Furthermore, the sweat response was not observed by the thermoregulatory sweat test or the acetylcholine sweat-spot test. Based on these findings, the boy was diagnosed as having anhidrotic ectodermal dysplasia. His family history revealed that his mother also had defective tooth formation. A DNA sequencing analysis demonstrated that he and his mother had an identical missense mutation (c. 1037G>A) in exon 9 of the EDA gene on one X chromosome, indicating that his mother was a heterozygous carrier.
