Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.
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Auteurs : A. Clarke ; J. BurnSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1991-05.
Descripteurs français
- Wicri :
- topic : Transporteur.
English descriptors
- KwdEn :
- Accurate diagnosis, Carrier, Carrier females, Carrier status, Clarke, Definite carriers, Dysplasia, Ectodermal, Ectodermal dysplasia, Family history, Female carriers, Genet, Genetic study, Hereditary ectodermal dysplasia, Hypohidrotic, Hypohidrotic ectodermal dysplasia, Incontinentia pigmenti, Lyon hypothesis, Male infants, Male offspring, Normal variation, Patchy, Pore, Possible xhed, Such sweat testing, Sweat glands, Sweat pore count, Sweat pores, Sweat test, Sweat test protocol, Sweat testing, Sweat tests, Third molars, Xhed.
- Teeft :
- Accurate diagnosis, Carrier, Carrier females, Carrier status, Clarke, Definite carriers, Dysplasia, Ectodermal, Ectodermal dysplasia, Family history, Female carriers, Genet, Genetic study, Hereditary ectodermal dysplasia, Hypohidrotic, Hypohidrotic ectodermal dysplasia, Incontinentia pigmenti, Lyon hypothesis, Male infants, Male offspring, Normal variation, Patchy, Pore, Possible xhed, Such sweat testing, Sweat glands, Sweat pore count, Sweat pores, Sweat test, Sweat test protocol, Sweat testing, Sweat tests, Third molars, Xhed.
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.
Url:
DOI: 10.1136/jmg.28.5.330
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A. Clarke<affiliation><mods:affiliation>Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff.</mods:affiliation><wicri:noCountry code="subField">Cardiff.</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff.</mods:affiliation><wicri:noCountry code="subField">Cardiff.</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.</title><author><name sortKey="Clarke, A" sort="Clarke, A" uniqKey="Clarke A" first="A" last="Clarke">A. Clarke</name><affiliation><mods:affiliation>Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff.</mods:affiliation><wicri:noCountry code="subField">Cardiff.</wicri:noCountry></affiliation></author><author><name sortKey="Burn, J" sort="Burn, J" uniqKey="Burn J" first="J" last="Burn">J. Burn</name><affiliation><mods:affiliation>Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff.</mods:affiliation><wicri:noCountry code="subField">Cardiff.</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:366A919E71419E9F126674A6762B035B69635C37</idno><date when="1991" year="1991">1991</date><idno type="doi">10.1136/jmg.28.5.330</idno><idno type="url">https://api.istex.fr/document/366A919E71419E9F126674A6762B035B69635C37/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001A61</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001A61</idno><idno type="wicri:Area/Istex/Curation">001A61</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.</title><author><name sortKey="Clarke, A" sort="Clarke, A" uniqKey="Clarke A" first="A" last="Clarke">A. Clarke</name><affiliation><mods:affiliation>Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff.</mods:affiliation><wicri:noCountry code="subField">Cardiff.</wicri:noCountry></affiliation></author><author><name sortKey="Burn, J" sort="Burn, J" uniqKey="Burn J" first="J" last="Burn">J. Burn</name><affiliation><mods:affiliation>Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff.</mods:affiliation><wicri:noCountry code="subField">Cardiff.</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="1991-05">1991-05</date><biblScope unit="volume">28</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="330">330</biblScope></imprint><idno type="ISSN">0022-2593</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Accurate diagnosis</term><term>Carrier</term><term>Carrier females</term><term>Carrier status</term><term>Clarke</term><term>Definite carriers</term><term>Dysplasia</term><term>Ectodermal</term><term>Ectodermal dysplasia</term><term>Family history</term><term>Female carriers</term><term>Genet</term><term>Genetic study</term><term>Hereditary ectodermal dysplasia</term><term>Hypohidrotic</term><term>Hypohidrotic ectodermal dysplasia</term><term>Incontinentia pigmenti</term><term>Lyon hypothesis</term><term>Male infants</term><term>Male offspring</term><term>Normal variation</term><term>Patchy</term><term>Pore</term><term>Possible xhed</term><term>Such sweat testing</term><term>Sweat glands</term><term>Sweat pore count</term><term>Sweat pores</term><term>Sweat test</term><term>Sweat test protocol</term><term>Sweat testing</term><term>Sweat tests</term><term>Third molars</term><term>Xhed</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Accurate diagnosis</term><term>Carrier</term><term>Carrier females</term><term>Carrier status</term><term>Clarke</term><term>Definite carriers</term><term>Dysplasia</term><term>Ectodermal</term><term>Ectodermal dysplasia</term><term>Family history</term><term>Female carriers</term><term>Genet</term><term>Genetic study</term><term>Hereditary ectodermal dysplasia</term><term>Hypohidrotic</term><term>Hypohidrotic ectodermal dysplasia</term><term>Incontinentia pigmenti</term><term>Lyon hypothesis</term><term>Male infants</term><term>Male offspring</term><term>Normal variation</term><term>Patchy</term><term>Pore</term><term>Possible xhed</term><term>Such sweat testing</term><term>Sweat glands</term><term>Sweat pore count</term><term>Sweat pores</term><term>Sweat test</term><term>Sweat test protocol</term><term>Sweat testing</term><term>Sweat tests</term><term>Third molars</term><term>Xhed</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Transporteur</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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