Ectodermal dysplasias: a new clinical-genetic classification
نویسندگان
چکیده
منابع مشابه
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...
متن کاملEctodermal 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 ...
متن کاملEctodermal 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...
متن کاملDermatologic 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...
متن کاملThe WNT10A gene in ectodermal dysplasias and selective tooth agenesis.
Mutations in the WNT10A gene were first detected in the rare syndrome odonto-onycho-dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35-50% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40% had at least one mutation in the WNT10A gene. The WNT10A Phe...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 1468-6244
DOI: 10.1136/jmg.38.9.579