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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.

SUBMITTER: Vora RV

PROVIDER: S-EPMC4253253 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature

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Christ-siemens-touraine syndrome: case report of 2 brothers.

Vora Rita V RV Anjaneyan Gopikrishnan G Chaudhari Arvind A Pilani Abhishek P AP

Journal of clinical and diagnostic research : JCDR 20141020 10

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 ...[more]

PMID: 25478435

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