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Concept: EDA

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Ectodermal dysplasias (EDs) are a large group of heritable complex conditions with more than 200 members and common clinical characteristics of anomalies of the hair, teeth, nails, and sweat glands with or without involvement of other organs (1) . Anhidrotic or hypohidrotic ectodermal dysplasia (EDA/ HED) is the most common form of EDs which is characterized by the clinical triad of hypotrichosis (sparse hair), abnormal or missing teeth (anodontia or hypodontia), and deficient sweating (hypohidrosis or anhidrosis) (2) . Different modes of inheritance have been described for HED. X-linked HED (OMIM: 305100) is caused by mutations in ectodysplasin A gene (EDA1), whereas mutations in the EDA receptor (EDAR) and EDAR-associated death domain (EDARADD) genes result in autosomal dominant (OMIM:129490) and autosomal recessive (OMIM: 224900) forms (3) .

Concepts: DNA, Genetics, Mutation, Point mutation, Genodermatoses, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA

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Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is an inherited disorder and generally characterized by the diminution or absence of eccrine sweat glands, oligodontia, peg shaped teeth, and sparse hair.1X-linked Hypohidrotic (anhidrotic) ectodermal dysplasia (XLHED) is the most frequent inheritance patterns, though in some cases autosomal dominant and recessive inheritance patterns were also reported.2,34 genes (EDA, EDAR, EDARADD and WNT10A) account for more than 90% of HED cases and the mutations in Ectodysplasin-A (EDA) gene are the most prevalent (58%).4This article is protected by copyright. All rights reserved.

Concepts: Genetics, Chromosome, Genodermatoses, All rights reserved, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA, Copyright

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The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin (EDA) is the causative gene of XLHED.

Concepts: Gene, Evolution, Genodermatoses, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA, Prenatal diagnosis

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Hypohidrotic ectodermal dysplasia (HED) has a prevalence of 1:5,000-10,000 newborns and it is characterized by hypotrichosis and abnormalities in teeth and sweat glands.(1) Most patients have an X-linked (XLHED) pattern of inheritance due to mutations in EDA which encodes for ectodysplasin. In addition, three HED-associated autosomal genes are known: EDAR which encodes for an ectodysplasin receptor; EDARADD corresponding to a cytoplasmic adaptor molecule and WNT10A which encodes for a signaling molecule of the WNT/β-catenin pathway.(1-4) This article is protected by copyright. All rights reserved.

Concepts: Protein, Genetics, Genodermatoses, All rights reserved, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA, Copyright

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Mutations in the EDA gene, encoding the epithelial morphogen ectodysplasin-A, can result in different but overlapping phenotypes. Therefore the aim of the study was to search for etiological variations of EDA and other candidate genes in two unrelated Egyptian male children with sporadic non-syndromic tooth agenesis (NTA) and hypohidrotic ectodermal dysplasia (HED).

Concepts: DNA, Gene, Genetics, Gene expression, Evolution, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA

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Anhidrotic ectodermal dysplasia (AED) is an inherited syndrome, which originates mainly from genetic alteration of the ectodysplasin A (EDA) gene. It regularly affects the adnexa of the skin which results in a characteristic phenotype of the patients including hypo- or anhidrosis leading to severe disturbances in the regulation of body temperature.

Concepts: Gene, Biology, Medical terms, Genodermatoses, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA, Michael Berryman

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X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormalities of hair, teeth, and sweat glands, while non-syndromic hypodontia (NSH) affects only teeth. Mutations in Ectodysplasin A (EDA) underlie both XLHED and NSH. This study investigated the genetic causes of six hypohidrotic ectodermal dysplasia (HED) patients and genotype-phenotype correlation.

Concepts: DNA, Genetics, Cancer, Mutation, Genodermatoses, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA

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X-linked hypohidrotic ectodermal dysplasia (XLHED), the most frequent form of ectodermal dysplasia, is a genetic disorder of ectoderm development characterized by malformation of multiple ectodermal structures such as skin, hair, sweat and sebaceous glands, and teeth. The disease is caused by a broad spectrum of mutations in the gene EDA. Although XLHED symptoms show inter-familial and intra-familial variability, genotype-phenotype correlation has been demonstrated with respect to sweat gland function. In this study, we investigated to which extent the EDA genotype correlates with the severity of XLHED-related skin and hair signs. Nineteen male children with XLHED (age range 3-14 years) and seven controls (aged 6-14 years) were examined by confocal microscopy of the skin, quantification of pilocarpine-induced sweating, semi-quantitative evaluation of full facial photographs with respect to XLHED-related skin issues, and phototrichogram analysis. All eight boys with known hypomorphic EDA mutations were able to produce at least some sweat and showed less severe cutaneous signs of XLHED than the anhidrotic XLHED patients (e.g., perioral and periorbital eczema or hyperpigmentation, regional hyperkeratosis, characteristic wrinkles under the eyes). As expected, individuals with XLHED had significantly less and thinner hair than healthy controls. However, there were also significant differences in hair number, diameter, and other hair characteristics between the group with hypomorphic EDA mutations and the anhidrotic patients. In summary, this study indicated a remarkable genotype-phenotype correlation of skin and hair findings in prepubescent males with XLHED. © 2014 Wiley Periodicals, Inc.

Concepts: Genetics, Skin, Genodermatoses, Acne vulgaris, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA, Sweat gland

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Oligodontia is the developmental absence of more than 5 permanent teeth except for the third molar. Familial oligodontia can occur as an isolated form or as part of a genetic syndrome. Mutations in the MSX1, PAX9, AXIN2, EDA, and WNT10A genes have been identified in familial non-syndromic oligodontia. Ectodermal dysplasia is a group of syndromes involving abnormalities of the ectodermal structures and is comprised of more than 150 different forms. Mutations in the ectodysplasin-A (EDA) gene have been associated with X-linked hypohidrotic ectodermal dysplasia, and partial disruption of the EDA signaling pathway has been shown to cause an isolated form of oligodontia. We identified 2 X-linked oligodontia families and performed mutational analysis of the EDA gene. The mutational analysis revealed 2 novel EDA mutations: c.866G>T, p.Arg289Leu and c.1135T>G, p.Phe379Val (reference sequence NM_001399.4). These mutations were perfectly segregated with oligodontia and curly hair within each family and were not found in the 150 control X-chromosomes with the same ethnic background and in the exome variant server. This study broadens the mutational spectrum of the EDA gene and the understanding of X-linked oligodontia with curly hair.

Concepts: Family, DNA, Protein, Genetics, Teeth, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA

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Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, dental abnormalities, sparse hair, and immunodeficiency. Autosomal dominant (AD)-EDA-ID, caused by a heterozygous mutation within NFKBIA, is very rare and its clinical features remain largely unknown. This study describes a patient with AD-EDA-ID harboring a novel NFKBIA mutation who presented with mild EDA and non-infectious systemic inflammation.

Concepts: Immune system, Inflammation, Mutation, Genodermatoses, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, EDA, Michael Berryman