Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo +3 more
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Hypohidrotic Ectodermal Dysplasia: Prosthetic and Endodontic Management
Individuals affected by ectodermal dysplasia syndromes have abnormalities of the glands, tooth buds, hair follicles, and nail development. Oral finding in ectodermal dysplasia patient are significant and can include multiple abnormalities of the dentition such as anodontia, hy-podontia or malformed and widely spaced peg like teeth, loss of occlusal ...
Alok Kumar +3 more
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Atopic Diathesis in Hypohidrotic/anhidrotic Ectodermal Dysplasia
Recently, patients with hypohidrotic/anhidrotic ectodermal dysplasia (H/AED) have been reported to have a higher prevalence of symptoms suggestive of atopic disorders than the general population. To better understand atopic diathesis in H/AED, 6 cases of clinically or genetically diagnosed H/AED were examined. The following criteria were evaluated with
Mizuki Yutani +6 more
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Ectodermal dysplasia in identical twins
Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands.
Gurkar Haraswarupa Puttaraju +1 more
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Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype
Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter +5 more
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Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. [PDF]
J. Zonana +3 more
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Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. [PDF]
J. P. Fryns +2 more
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Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations [PDF]
Alex W. Monreal +2 more
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Despite the hair failing, nails thrive…
Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee +1 more
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Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia [PDF]
Yanwen Chen +8 more
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