A Rare Entity of Christ Siemens Touraine Syndrome

Abstract

This case study highlights a rare entity of Christ Siemens Touraine Syndrome. 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. Management usually demands a multidisciplinary team approach. It includes protection from exposure to high temperatures, early dental evaluation for adequate nutrition, removable prosthodontics and dental implants, use of lacrimal tears to prevent corneal damage.