Classifying functional manifestations of ectodermal dysplasias

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Ectodermal dysplasias revisited.

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 (Se...

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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: a clinical and molecular review.

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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Ectodermal dysplasias: a new clinical-genetic classification.

The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some co...

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Otologic manifestations of ectodermal dysplasia.

OBJECTIVES To determine the range and prevalence of otologic disorders in patients with ectodermal dysplasia (ED) and provide a general review of its multiple otolaryngological manifestations. DESIGN Case series. SETTING Ectodermal dysplasia family conference. PATIENTS Sixty-nine individuals with ED were evaluated. The average age was 11 years (range, 1-56 years). Most were male patients ...

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ژورنال

عنوان ژورنال: American Journal of Medical Genetics Part A

سال: 2009

ISSN: 1552-4825,1552-4833

DOI: 10.1002/ajmg.a.32991