Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers
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 X...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2014-10-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/5031/9544_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(NC_Sh)_PF2(PAG).pdf |
| Summary: | 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. |
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| ISSN: | 2249-782X 0973-709X |