Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation
Identifieur interne : 006A76 ( Main/Exploration ); précédent : 006A75; suivant : 006A77Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation
Auteurs : Kamaldeep Sandhu [Inde] ; Sanjeev Handa [Inde] ; A. J. Kanwar [Inde]Source :
- International Journal of Dermatology [ 0011-9059 ] ; 2007-06.
Descripteurs français
- Wicri :
- topic : Petite enfance.
English descriptors
- KwdEn :
- Anhidrotic, Anhidrotic ectodermal dysplasia, Case report, Complete absence, Dental abnormalities, Dermatology, Dysplasia, Early childhood, Ectodermal, Ectodermal dysplasia, Genet, Hereditary ectodermal dysplasia, Hidrotic ectodermal dysplasia, Hypohidrotic, Hypohidrotic ectodermal dysplasia, International journal, International society, Keratoderma, Maternal uncle, Medical education, Medical genetics, Mental retardation, Palmoplantar, Palmoplantar keratoderma, Primary hypogonadism, Sandhu, Sparse hair, Sweat glands, Younger brother.
- Teeft :
- Anhidrotic, Anhidrotic ectodermal dysplasia, Case report, Complete absence, Dental abnormalities, Dermatology, Dysplasia, Early childhood, Ectodermal, Ectodermal dysplasia, Genet, Hereditary ectodermal dysplasia, Hidrotic ectodermal dysplasia, Hypohidrotic, Hypohidrotic ectodermal dysplasia, International journal, International society, Keratoderma, Maternal uncle, Medical education, Medical genetics, Mental retardation, Palmoplantar, Palmoplantar keratoderma, Primary hypogonadism, Sandhu, Sparse hair, Sweat glands, Younger brother.
Abstract
Anhidrotic ectodermal dysplasia (AED), or Christ–Siemens–Touraine syndrome, was first described in 1848 by Thurnam.1 It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia. The mode of inheritance is predominantly X‐linked but an autosomal recessive pattern has also been observed.2 Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia;3 however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.
Url:
DOI: 10.1111/j.1365-4632.2007.02432.x
Affiliations:
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Kanwar</name><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>From the Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh</wicri:regionArea><wicri:noRegion>Chandigarh</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">International Journal of Dermatology</title><title level="j" type="alt">INTERNATIONAL JOURNAL OF DERMATOLOGY</title><idno type="ISSN">0011-9059</idno><idno type="eISSN">1365-4632</idno><imprint><biblScope unit="vol">46</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="631">631</biblScope><biblScope unit="page" to="633">633</biblScope><biblScope unit="page-count">3</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2007-06">2007-06</date></imprint><idno type="ISSN">0011-9059</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0011-9059</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anhidrotic</term><term>Anhidrotic ectodermal dysplasia</term><term>Case report</term><term>Complete absence</term><term>Dental abnormalities</term><term>Dermatology</term><term>Dysplasia</term><term>Early childhood</term><term>Ectodermal</term><term>Ectodermal dysplasia</term><term>Genet</term><term>Hereditary ectodermal dysplasia</term><term>Hidrotic ectodermal dysplasia</term><term>Hypohidrotic</term><term>Hypohidrotic ectodermal dysplasia</term><term>International journal</term><term>International society</term><term>Keratoderma</term><term>Maternal uncle</term><term>Medical education</term><term>Medical genetics</term><term>Mental retardation</term><term>Palmoplantar</term><term>Palmoplantar keratoderma</term><term>Primary hypogonadism</term><term>Sandhu</term><term>Sparse hair</term><term>Sweat glands</term><term>Younger brother</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Anhidrotic</term><term>Anhidrotic ectodermal dysplasia</term><term>Case report</term><term>Complete absence</term><term>Dental abnormalities</term><term>Dermatology</term><term>Dysplasia</term><term>Early childhood</term><term>Ectodermal</term><term>Ectodermal dysplasia</term><term>Genet</term><term>Hereditary ectodermal dysplasia</term><term>Hidrotic ectodermal dysplasia</term><term>Hypohidrotic</term><term>Hypohidrotic ectodermal dysplasia</term><term>International journal</term><term>International society</term><term>Keratoderma</term><term>Maternal uncle</term><term>Medical education</term><term>Medical genetics</term><term>Mental retardation</term><term>Palmoplantar</term><term>Palmoplantar keratoderma</term><term>Primary hypogonadism</term><term>Sandhu</term><term>Sparse hair</term><term>Sweat glands</term><term>Younger brother</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Petite enfance</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Anhidrotic ectodermal dysplasia (AED), or Christ–Siemens–Touraine syndrome, was first described in 1848 by Thurnam.1 It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia. The mode of inheritance is predominantly X‐linked but an autosomal recessive pattern has also been observed.2 Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia;3 however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.</div></front></TEI><affiliations><list><country><li>Inde</li></country></list><tree><country name="Inde"><noRegion><name sortKey="Sandhu, Kamaldeep" sort="Sandhu, Kamaldeep" uniqKey="Sandhu K" first="Kamaldeep" last="Sandhu">Kamaldeep Sandhu</name></noRegion><name sortKey="Handa, Sanjeev" sort="Handa, Sanjeev" uniqKey="Handa S" first="Sanjeev" last="Handa">Sanjeev Handa</name><name sortKey="Kanwar, A J" sort="Kanwar, A J" uniqKey="Kanwar A" first="A. J." last="Kanwar">A. J. Kanwar</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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