Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Burn, J. 1991. Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 28 (5) , pp. 330-333. 10.1136/jmg.28.5.330

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Abstract

X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an accurate diagnosis for isolated females who present with features of ectodermal dysplasia. The advantages of diagnosing female carriers of XHED include the optimisation of neonatal and paediatric care for affected male infants, who may be at substantial risk of death in infancy.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ
ISSN:	1468-6244
Last Modified:	25 Oct 2022 09:56
URI:	https://orca.cardiff.ac.uk/id/eprint/60568

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