title: Christ-siemens-touraine syndrome: case report of 2 brothers.
abstract: 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.
authors.affiliation: Professor and HOD, Department of Skin and VD, PS Medical College and SKH , Karamsad, Anand, Gujarat, India .
authors.forename: Rita V
authors.initials: RV
authors.lastname: Vora
authors.affiliation: Assistant Professor, Department of Skin and VD, Amrita Institute of Medical Sciences , Kochi, Kerla, India .
authors.forename: Gopikrishnan
authors.initials: G
authors.lastname: Anjaneyan
authors.affiliation: 2 year Resident, Department of Skin and VD, PS Medical College and SKH , Karamsad, Anand, Gujarat, India .
authors.forename: Arvind
authors.initials: A
authors.lastname: Chaudhari
authors.affiliation: 2 Year Resident, Department of Skin and VD, PS Medical College and SKH , Karamsad, Anand, Gujarat, India .
authors.forename: Abhishek P
authors.initials: AP
authors.lastname: Pilani
keywords: Dysplasia; Ectodermal; Hypohidrotic