Open AccessChrist-Siemens-Touraine Syndrome: Case Report of 2 Brothers
Author(s) -
Rita V Vora,
Gopikrishnan Anjaneyan,
Arvind Chaudhari,
Abhishek P Pilani
Publication year - 2014
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2014/9544.5031
Subject(s) - ectodermal dysplasia , hypotrichosis , hypohidrotic ectodermal dysplasia , dermatology , sweat gland , nail (fastener) , medicine , abnormality , sweat , anatomy , genetics , biology , gene , materials science , psychiatry , metallurgy
Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin. It is caused by mutation in gene ectodysplasin (EDA, EDA1) located at Xq12-13. Main clinical feature of HED is sparse or absent eccrine gland as well as hypotrichosis, nail, and teeth abnormality with characteristic faces. The absence or diminished activity of sweat gland results in patients having more chances of developing hyperthermia and with intolerance to warm environment. Most do well with simple measures such as wet clothes, air conditioning, wet bands etc. We present cases of two brothers, born of non-consanguineous marriage, who presented to us with complaints of heat intolerance and abnormal facial features.