1. bookVolume 26 (2020): Issue 2 (May 2020)
Journal Details
License
Format
Journal
First Published
16 Feb 2013
Publication timeframe
4 times per year
Languages
English
access type Open Access

Anhydrotic Ectodermal Dysplasia – A Cause of Prolonged Fever in Infant

Published Online: 01 Jul 2021
Page range: 58 - 62
Journal Details
License
Format
Journal
First Published
16 Feb 2013
Publication timeframe
4 times per year
Languages
English
Abstract

Ectodermal dysplasia is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth and sweat glands. Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) is only one of this large and heterogenous group, but is the most frequent. An inability to sweat (anhidrosis) can lead to high body temperature (hyperthermia), because the body cannot cool itself by evaporating sweat. The authors present the diagnostic difficulties in an infant with this condition, in which prolonged fever was the dominant symptom.

Keywords

1. Bembea M. Genetica in pediatrie. Cmpendiu clinic. 1 ed. Cluj-Napoca: Risoprint; 2016. 493 p Search in Google Scholar

2. Pinheiro M, Freire-Maia N. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet. 1994;53(2):153–62. Search in Google Scholar

3. Priolo M, Laganà C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001 Sep;38(9):579–85. Search in Google Scholar

4. Voloşciuc M. Displazia ectodermală 1, anhidrotică; (ED1) [Internet]. Available from: http://edubolirare.ro/node/45 Search in Google Scholar

5. Home - NORD (National Organization for Rare Disorders). Home - NORD (National Organization for Rare Disorders) [Internet]. Available from: https://rarediseases.org/ Search in Google Scholar

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