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: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2014-10-01
|
| 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 |
| _version_ | 1819017366041788416 |
|---|---|
| author | RITA V VORA GOPIKRISHNAN ANJANEYAN ARVIND CHAUDHARI ABHISHEK P PILANI |
| author_facet | RITA V VORA GOPIKRISHNAN ANJANEYAN ARVIND CHAUDHARI ABHISHEK P PILANI |
| author_sort | RITA V VORA |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T03:02:23Z |
| format | Article |
| id | doaj.art-4179881788c54329853e1ad449ab2671 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-21T03:02:23Z |
| publishDate | 2014-10-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-4179881788c54329853e1ad449ab26712022-12-21T19:18:08ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2014-10-01810YD01YD0210.7860/JCDR/2014/9544.5031Christ-Siemens-Touraine Syndrome: Case Report of 2 BrothersRITA V VORA0GOPIKRISHNAN ANJANEYAN1ARVIND CHAUDHARI2ABHISHEK P PILANI3Professor and HOD, Department of Skin and VD, PS Medical College and SKH, Karamsad, Anand, Gujarat, India.Assistant Professor, Department of Skin and VD, Amrita Institute of Medical Sciences, Kochi, Kerla, India.2rd year Resident, Department of Skin and VD, PS Medical College and SKH, Karamsad, Anand, Gujarat, India.2nd Year Resident, Department of Skin and VD, PS Medical College and SKH, Karamsad, Anand, Gujarat, India.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.https://jcdr.net/articles/PDF/5031/9544_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(NC_Sh)_PF2(PAG).pdfdysplasiaectodermalhypohidrotic |
| spellingShingle | RITA V VORA GOPIKRISHNAN ANJANEYAN ARVIND CHAUDHARI ABHISHEK P PILANI Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers Journal of Clinical and Diagnostic Research dysplasia ectodermal hypohidrotic |
| title | Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers |
| title_full | Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers |
| title_fullStr | Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers |
| title_full_unstemmed | Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers |
| title_short | Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers |
| title_sort | christ siemens touraine syndrome case report of 2 brothers |
| topic | dysplasia ectodermal hypohidrotic |
| url | https://jcdr.net/articles/PDF/5031/9544_CE(Ra)_F(Sh)_PF1(SNAK)_PFA(NC_Sh)_PF2(PAG).pdf |
| work_keys_str_mv | AT ritavvora christsiemenstourainesyndromecasereportof2brothers AT gopikrishnananjaneyan christsiemenstourainesyndromecasereportof2brothers AT arvindchaudhari christsiemenstourainesyndromecasereportof2brothers AT abhishekppilani christsiemenstourainesyndromecasereportof2brothers |