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Thermoregulation in Ectodermal Dysplasia: A Case Series
Ectodermal dysplasia (ED) is a rare genetic disorder occurring as a consequence of gene mutations that code for the ectoderm of the developing embryo and results in numerous disorders of varying severity. The lack of functioning sweat glands in those affected with ED leads to high infant mortality a...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888138/ https://www.ncbi.nlm.nih.gov/pubmed/31731639 http://dx.doi.org/10.3390/ijerph16224514 |
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author | Massey, Heather House, James Tipton, Michael |
author_facet | Massey, Heather House, James Tipton, Michael |
author_sort | Massey, Heather |
collection | PubMed |
description | Ectodermal dysplasia (ED) is a rare genetic disorder occurring as a consequence of gene mutations that code for the ectoderm of the developing embryo and results in numerous disorders of varying severity. The lack of functioning sweat glands in those affected with ED leads to high infant mortality and frequent complaints of hyperthermia. Temperature control of two adolescents affected with ED was assessed by conducting heat and exercise exposures while monitoring insulated auditory canal (T(ac)) and skin temperatures, sweating rates, and skin blood flow. One participant was able to sweat and regulate his T(ac) while a second participant could not regulate T(ac) without a cooling intervention. The heterogeneous nature of ED, and these cases highlight the need for a case-by-case review of temperature control of individuals affected with ED. This will determine cooling strategies that would be of most benefit to the individual. |
format | Online Article Text |
id | pubmed-6888138 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-68881382019-12-09 Thermoregulation in Ectodermal Dysplasia: A Case Series Massey, Heather House, James Tipton, Michael Int J Environ Res Public Health Case Report Ectodermal dysplasia (ED) is a rare genetic disorder occurring as a consequence of gene mutations that code for the ectoderm of the developing embryo and results in numerous disorders of varying severity. The lack of functioning sweat glands in those affected with ED leads to high infant mortality and frequent complaints of hyperthermia. Temperature control of two adolescents affected with ED was assessed by conducting heat and exercise exposures while monitoring insulated auditory canal (T(ac)) and skin temperatures, sweating rates, and skin blood flow. One participant was able to sweat and regulate his T(ac) while a second participant could not regulate T(ac) without a cooling intervention. The heterogeneous nature of ED, and these cases highlight the need for a case-by-case review of temperature control of individuals affected with ED. This will determine cooling strategies that would be of most benefit to the individual. MDPI 2019-11-15 2019-11 /pmc/articles/PMC6888138/ /pubmed/31731639 http://dx.doi.org/10.3390/ijerph16224514 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Massey, Heather House, James Tipton, Michael Thermoregulation in Ectodermal Dysplasia: A Case Series |
title | Thermoregulation in Ectodermal Dysplasia: A Case Series |
title_full | Thermoregulation in Ectodermal Dysplasia: A Case Series |
title_fullStr | Thermoregulation in Ectodermal Dysplasia: A Case Series |
title_full_unstemmed | Thermoregulation in Ectodermal Dysplasia: A Case Series |
title_short | Thermoregulation in Ectodermal Dysplasia: A Case Series |
title_sort | thermoregulation in ectodermal dysplasia: a case series |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888138/ https://www.ncbi.nlm.nih.gov/pubmed/31731639 http://dx.doi.org/10.3390/ijerph16224514 |
work_keys_str_mv | AT masseyheather thermoregulationinectodermaldysplasiaacaseseries AT housejames thermoregulationinectodermaldysplasiaacaseseries AT tiptonmichael thermoregulationinectodermaldysplasiaacaseseries |