Christ Siemens Touraine syndrome: a rare entity

Abstract

Ectodermal dysplasia is a rare entity with incidence of 1 in 1,00,000 births with male predominance. Most commonly it presents with appendageal abnormality with facial dysmorphism. The two most common types of ectodermal dysplasias are hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) and hidrotic ectodermal dysplasia (Clouston syndrome). Clinical recognition varies depending on severity of symptoms and associated complications. The prognosis is good after infancy if diagnosed early with appropriate management of complications. Here we present a case of eight-month-old female with hypohidrotic ectodermal dysplasia.