Journal ArticleDOI
Clinical Spectrum of Anhidrotic Ectodermal Dysplasia
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TLDR
Anhidrotic ectodermal dysplasia is characterized by greatly reduced to absent eccrine glands and sebaceous glands and a characteristic facies and in a study of three male patients it was found all three had classical atopic dermatitis and asthma.Abstract:
Anhidrotic ectodermal dysplasia is characterized by greatly reduced to absent eccrine glands and sebaceous glands and a characteristic facies. In our study of three male patients we found all three had classical atopic dermatitis and asthma. The autopsy of one patient showed an absence of mucous glands in the pharynx, larynx, trachea, large and small bronchi, and upper esophagus. These changes may be responsible for the increased susceptibility to respiratory infections. We also noted hypoplasia of the colonic glands. It is a sex-linked recessive disorder in which female carriers may show reduced sweating and faulty dentition.read more
Citations
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Journal ArticleDOI
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
Juha Kere,Anand Srivastava,Outi Montonen,Jonathan Zonana,Nicholas Stuart Tudor Thomas,Betsy Ferguson,Felix Munoz,Delyth Morgan,Angus John Clarke,Primo Baybayan,Ellson Y. Chen,Sini Ezer,Ulpu Saarialho-Kere,Ulpu Saarialho-Kere,Albert de la Chapelle,David Schlessinger +15 more
TL;DR: The positional cloning of the gene mutated in EDA is described, which encode a predicted 135–residue transmembrane protein that may belong to a novel class with a role in epithelial–mesenchymal signalling.
Journal ArticleDOI
Dental agenesis: genetic and clinical perspectives
TL;DR: The objective was to review the current literature on the molecular mechanisms that are responsible for selective dental agenesis in humans and to present a detailed overview of syndromes with hypodontia and their causative genes.
Journal ArticleDOI
Ectodysplasin signaling in development
Marja L. Mikkola,Irma Thesleff +1 more
TL;DR: Studies with mice either lacking the functional proteins of Edar pathway or overexpressing the ligand or receptor suggest that Eda-A1-Edar signaling has multiple roles in ectodermal organ development regulating their initiation, morphogenesis, and differentiation.
Journal ArticleDOI
Ectodermal dysplasias: a new clinical-genetic classification
Manuela Priolo,Carmelo Laganà +1 more
TL;DR: A clinical-genetic classification of EDs is proposed, expanded to other entities in which no causative genes have been identified based on the phenotype, and possible candidate genes suggested by associated “non-ectodermal” features are speculated on.
Journal ArticleDOI
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition
Roderick J. Hay,R.S. Wells +1 more
TL;DR: Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate, and the relationship between this and similar syndromes is discussed.
References
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Journal ArticleDOI
Two cases in which the skin, hair and teeth were very imperfectly developed.
Journal ArticleDOI
Gene effect in carriers of anhidrotic ectodermal dysplasia.
C B Kerr,R S Wells,K E Cooper +2 more
TL;DR: Anhidrotic Ectodermal Dysplasia In an extensive review of different forms of hereditary ectodermal dysplasia, Cockayne (I933) recognized two types of inheritance for the variety characterized by anhidrosis, hypotrichosis, and complete or partial anodontia.
Journal Article
Familial ectodermal dysplasia with sensori-neural deafness and other anomalies
TL;DR: The pedigree of a family with hereditary ectodermal dysplasia of the hidrotic type in which various members showed sensori-neural hearing loss, polydactylism, and syndactylist is presented.
Journal ArticleDOI
Hereditary anhidrotic ectodermal dysplasia, a clinical and pathologic study.
TL;DR: This paper will be confined to the study of the 4 patients affected by anhidrotic ectodermal dysplasia, one of a group of approximately 200 primarily cutaneous congenital abnormalities described in Cockayne's extensive study of this subject.