Orofacial Features of Hypohidrotic Ectodermal Dysplasia
Identifieur interne : 003108 ( Main/Exploration ); précédent : 003107; suivant : 003109Orofacial Features of Hypohidrotic Ectodermal Dysplasia
Auteurs : Sibele Nascimento De Aquino ; Lívia Maris Ribeiro Paranaíba ; Mário Sérgio Oliveira Swerts ; Daniella Reis Barbosa Martelli ; Letízia Monteiro De Barros ; Hercílio Martelli JúniorSource :
- Head and Neck Pathology [ 1936-055X ] ; 2012.
Abstract
Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the
Url:
DOI: 10.1007/s12105-012-0349-4
PubMed: 22421994
PubMed Central: 3500897
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the <italic>EDA</italic>
gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.</p>
</div>
</front>
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<name sortKey="De Barros, Letizia Monteiro" sort="De Barros, Letizia Monteiro" uniqKey="De Barros L" first="Letízia Monteiro" last="De Barros">Letízia Monteiro De Barros</name>
<name sortKey="Junior, Hercilio Martelli" sort="Junior, Hercilio Martelli" uniqKey="Junior H" first="Hercílio Martelli" last="Júnior">Hercílio Martelli Júnior</name>
<name sortKey="Martelli, Daniella Reis Barbosa" sort="Martelli, Daniella Reis Barbosa" uniqKey="Martelli D" first="Daniella Reis Barbosa" last="Martelli">Daniella Reis Barbosa Martelli</name>
<name sortKey="Paranaiba, Livia Maris Ribeiro" sort="Paranaiba, Livia Maris Ribeiro" uniqKey="Paranaiba L" first="Lívia Maris Ribeiro" last="Paranaíba">Lívia Maris Ribeiro Paranaíba</name>
<name sortKey="Swerts, Mario Sergio Oliveira" sort="Swerts, Mario Sergio Oliveira" uniqKey="Swerts M" first="Mário Sérgio Oliveira" last="Swerts">Mário Sérgio Oliveira Swerts</name>
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