Christ-siemens-touraine syndrome with pulmonary tuberculosis: a case report

Nasreen Ali and Sunil Kumar Agarwalla

Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. Affecting 1 in 17000 individual.This rare disorder, also known as Christ-Siemens-Touraine syndrome,which is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis.
Here we report a case of 2 year old boy who was admitted to the department of paediatrics with complains of fever for one month.There was sparse hair, hypodontia with sharp incisor teeth and abnormal facies and B/L bronchial breath sounds were heard. Chest radiography showed B/L non homogenous opacity. Hence, a diagnosis of Christ-Siemens-Touraine syndrome with Pulmonary Tuberculosis was made.
Here we to want emphasize that there is immunodeficiency in ED which makes the children suceptible to many infections.

Download PDF: