Ectodermal dysplasias revisited.
نویسنده
چکیده
Ectodermal dysplasias (EDs) form a large, heterogeneous and increasing nosologic group. Every year, new syndromes are described and labelled as EDs. A few years ago, with the intention of reducing the chaotic aspect that the field was gaining, we proposed a clinical definition and a clinical-mnemonic classification of EDs (Freire-Maia 1971). Since that time, two other reviews were published (Settineri 1974, Witkop et al. 1975), a " community of diseases " was described within EDs (Pinsky 1975), and the group was enlarged with the inclusion of some " new " syndromes. In our 1971 paper, we mentioned 32 EDs. Now that our list includes 52-57, we decided to revisit the subject in order to present a historical analysis and a new clinical overview of EDs as classified into subgroups.
منابع مشابه
Dermatologic aspects of ectodermal dysplasias
Ectodermal dysplasias are a large group of heterogeneous heritable conditions characterized by congenital defects of ectodermal structures and their appendages: hair (hypotrichosis, partial or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent) and sweat glands (hypoplastic or aplastic). The ectodermal dysplasias, as a rule, are not pure “o...
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Ectodermal dysplasias (EDs) are a group of human pathological conditions characterized by anomalies in organs derived from epithelial-mesenchymal interactions during development. Dlx3 and p63 act as part of the transcriptional regulatory pathways relevant in ectoderm derivatives, and autosomal mutations in either of these genes are associated with human EDs. However, the functional relationship...
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The ectodermal dysplasias are a large group of hereditary disorders characterized by alterations of structures of ectodermal origin. Although some syndromes can have specific features, many of them share common clinical characteristics. Two main groups of ectodermal dysplasias can be distinguished. One group is characterized by aplasia or hypoplasia of ectodermal tissues, which fail to develop ...
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Here we report two cases of anhidrotic ectodermal dysplasia in a family presented to us with intermittent fever, developmental delay, frontal bossing, hypohydrosis, sparse hair and oligodontia. Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive hypohidrotic ectodermal dysplasia (HED) and has a full expression in males, whereas fema...
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BACKGROUND Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia involving only hair and nails have been described. In an effort to understand the molecular bases of this form of ectodermal dysplasia, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remo...
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ورودعنوان ژورنال:
- Acta geneticae medicae et gemellologiae
دوره 26 2 شماره
صفحات -
تاریخ انتشار 1977