Ectodermal dysplasias: An overview and update of clinical and molecular‐functional mechanisms

Priolo, Manuela

doi:10.1002/ajmg.a.32804

Cited by 45 publications

(29 citation statements)

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“…The first group includes disorder in which a defect in the epithelial-mesenchymal interaction and the second group involved defect in cell-cell adhesion and communication. 8 The EDA, EDAR and EDARADD genes provide instructions for making proteins that work together during embryonic development.…”

Section: Discussionmentioning

confidence: 99%

Ectodermal Dysplasia- A Case of X-Linked Recessive Disorder

Kashid¹,

Patil²

2018

jemds

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Section: Discussionmentioning

confidence: 99%

Ectodermal Dysplasia- A Case of X-Linked Recessive Disorder

Kashid¹,

Patil²

2018

jemds

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Section: Prosthodontic Management Of Children With Ectodermal Dysplasmentioning

confidence: 99%

“…Lamartine reclassified the ED according to the function of their mutated genes into 4 functional groups: cell-cell communication and signaling; adhesion; transcription regulation; and development [16]. Recently, a new classification for ED has been proposed, based on the molecular genetic data by Priolo [17] who divided the ED into two groups. The first group includes disorder in which a defect in the epithelial-mesenchymal interaction and the second group involved defect in cell-cell adhesion and communication.…”

Section: Classificationmentioning

confidence: 99%

“…EDAR binds specifically the A1 isoform of EDA (EDA-A1) but not the EDA-A2 isoform that utilizes a distinct receptor. Autosomal HED may also be caused by mutation in a cytosolic, EDAR-specific adapter molecule named EDAR-associated death domain (EDARADD) [17,18,21,22].The EDA, EDAR and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm.…”

mentioning

confidence: 99%

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Prosthodontic Management of Children with Ectodermal Dysplasia: Review of Literature

Grover¹,

Mehra²

2015

Dentistry

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Prosthodontic Management of Children with Ectodermal Dysplasia: Review of LiteratureRashu Grover and Manjul Mehra* Department of Pedodontics and Preventive Dentistry, Sri Guru Ram Das Institute of Dental Sciences and Research, Amritsar, India gene was located to Xq 12-13 by Zonana et al. [20]. Autosomal forms of HED are due to mutation in the EDA receptor (EDAR). EDAR binds specifically the A1 isoform of EDA (EDA-A1) but not the EDA-A2 isoform that utilizes a distinct receptor. Autosomal HED may also be caused by mutation in a cytosolic, EDAR-specific adapter molecule named EDAR-associated death domain (EDARADD) [17,18,21,22].The EDA, EDAR and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. It is essential for the formation of several structures that arises from ectoderm, including the skin, hair, nails teeth and sweat glands. Mutation in these genes prevents normal interaction between the ectoderm and mesoderm and impairs the normal development of hair, sweat glands and the teeth [7,8]. The improper formation of these ectodermal structures leads to the characteristic features of HED. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the EDA pathway that are necessary for the activation of the transcription factor NFkappa b [18][19][20]23,24]. Clinical ManifestationsHypohidrosis is possibly the most remarkable characteristic of ED because it may not be the apparent in the first year of life but present later as a fever of unknown origin. The inability to sweat results in intolerance to heat, occasionally causing hyperpyrexia after mild exertion or even after a simple meal [25]. Resultant high fevers may lead to seizures and other neurological sequelae. This is one of the most common causes of mortality with a 30% rate in infancy and early childhood [26]. Other problems associated are pharyngitis, rhinitis, cheilitis and dysphagia may result from decreased number of mucous glands in the respiratory and gastrointestinal tracts [27] ClassificationThere are several classifications given by different authors. Some are based on clinical features and others on genetic component of the disorder [7,8]. Clinically there are two major types of ED namely hidrotic and anhidrotic (hypohidrotic form). The hidrotic form, inherited as an autosomal trait, affects teeth, hair and nails but usually spares the sweat glands and was first described by Clouston in 1929 [9]. Whereas the hypohidrotic form (Christ-Siemens-Touraine Syndrome) is most common type seems to be an X-linked recessive trait, with an incidence of this syndrome estimated to be 1 to 7 per 10,000 live births [10,11]. Hypodontia, hypotrichosis and hypohidrosis which form a triad are the characteristic feature of the hypohidrotic form [12,13].Other attempts at classifying EDs were proposed later [2,4,7,14,15]. ...

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“…Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 3 (EEC3) belongs to group 1 of ectodermal dysplasias according to a novel clinico-molecular classification [16,17], which not only denotes involvement of two or more ectodermal derivatives but also encompasses its genetic background and pathogenic mechanism (regulatory changes in transcription and/or expression of genes -in this instance p63). We report here a new patient with EEC3 due to a new heterozygous p63 mutation, and discuss the genotypic-phenotypic correlations of this syndrome.…”

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confidence: 99%