Case of X‐linked hypohidrotic ectodermal dysplasia, along with facial bilateral reticular pigmentation

Abstract

A novel phenotype of facial bilateral reticular pigmentation accompanied with severe xerotic dermatitis was found in a patient with X-linked hypohidrotic ectodermal dysplasia (XLHED). A novel point mutation p.C346R in EDA gene was identified without filaggrin mutations frequently observed in Japanese. A point mutation in EDA gene was considered to be responsible for these phenotype.