Actualización en displasia ectodérmica hipohidrótica

Published on Jun 1, 2015in Piel
· DOI :10.1016/J.PIEL.2014.10.006
Silvia Alejandra González Cerrato1
Estimated H-index: 1
Teresa Cacharrón Caramés1
Estimated H-index: 1
+ 2 AuthorsEsther Novoa García1
Estimated H-index: 1
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common genetic disorder of ectoderm development, presenting with abnormalities of skin, teeth, hair, and secretory glands. In the first years of life, XLHED-affected patients are at risk for life-threatening hyperthermia and pulmonary infection. Survival into childhood and beyond is associated with severe dental abnormalities as well as chronic growth, respiratory, skin, eye, and psychosocial disorders. Currently there are no approve...
18 CitationsSource
#1Céline Cluzeau (Necker-Enfants Malades Hospital)H-Index: 7
#2Smail Hadj-Rabia (Necker-Enfants Malades Hospital)H-Index: 32
Last. Asma Smahi (Necker-Enfants Malades Hospital)H-Index: 28
view all 23 authors...
Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth and hair. Three disease causing genes have been hitherto identified, namely i) EDA1 accounting for X-linked forms, ii) EDAR, and iii) EDARADD, causing both autosomal dominant and recessive forms. Recently, WNT10A gene was identified as responsible for various autosomal recessive forms of ectodermal dysplasias, including onycho-odonto-dermal dysplasia (O...
172 CitationsSource
Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway, respectively. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the Eda pathway that are ne...
208 CitationsSource
#1Margret L. Casal (UPenn: University of Pennsylvania)H-Index: 23
#2John R. Lewis (UPenn: University of Pennsylvania)H-Index: 14
Last. Pascal Schneider (UNIL: University of Lausanne)H-Index: 80
view all 10 authors...
Patients with defective ectodysplasin A (EDA) are affected by X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by sparse hair, inability to sweat, decreased lacrimation, frequent pulmonary infections, and missing and malformed teeth. The canine model of XLHED was used to study the developmental impact of EDA on secondary dentition, since dogs have an entirely brachyodont, diphyodont dentition similar to that in humans, as opposed to mice, which have only permanent te...
137 CitationsSource
3 CitationsSource
#1Waldo SepulvedaH-Index: 41
#1Waldo SepulvedaH-Index: 1
Last. P. VasquezH-Index: 2
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Ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectodermderived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. 1 Among them, the hypohidrotic type is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. 2-4 This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland f...
21 CitationsSource
#1Olivier Gaide (UNIL: University of Lausanne)H-Index: 26
#2Pascal Schneider (UNIL: University of Lausanne)H-Index: 80
X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a genetic disorder characterized by absence or deficient function of hair, teeth and sweat glands1. Affected children may experience life-threatening high fever resulting from reduced ability to sweat2. Mice with the Tabby phenotype share many symptoms with human XLHED patients because both phenotypes are caused by mutations of the syntenic ectodysplasin A gene (Eda) on the X chromosome3,4. Two main splice variants of Eda, encodi...
246 CitationsSource
#1Enitan D. CarrolH-Index: 29
#2Andrew R. GenneryH-Index: 63
Last. Mario AbinunH-Index: 47
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Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO , the gene encoding nuclear factor κB ( N F-κB) e ssential mo dulator, NEMO, or inhibitor of κB kinase (IKK-γ). This protein is essential for activation of the transcription factor NF-κB, which plays an important role in human development, skin homoeostasis, and immunity.
67 CitationsSource
Bajo el termino de displasia ectodermica se agrupa una gran variedad de cuadros clinicos que comparten unos rasgos comunes como la afectacion de uno o varios com-ponentes derivados del ectodermo y su origen congenito. En la actualidad se han descrito 154 tipos diferentes que se han distribuido en 11 grupos distintos (clasificacion de Freire Maia, 1994). De todos ellos, el cuadro mas frecuente es la displasia ectodermica hipo/anhidrotica (sindrome de Christ-Siemens-Touraine). Se trata de un trast...
8 CitationsSource
#1Mònica Bayés (UH: University of Helsinki)H-Index: 2
#2Andrew J. HartungH-Index: 7
Last. Juha Kere (UH: University of Helsinki)H-Index: 88
view all 7 authors...
Anhidrotic ectodermal dysplasia (EDA) is an X-linked recessive disorder which affects ectodermal structures. A cDNA encoding a 135 amino acid protein with mutations in 5-10% of EDA patients has been reported. We have built up a complete splicing map of the EDA gene and characterized the longest and what most probably represents the full-length EDA transcript, EDA-A. It encodes a 391 amino acid transmembrane protein with a short collagenous domain, (Gly-X-Y) 19 , and is highly homologous to the p...
181 CitationsSource
Cited By1
#1Luis Fernando González (El Bosque University)H-Index: 1
#2Luz Karem Morales (El Bosque University)
Last. Ladys Sarmiento (Grupo México)H-Index: 4
view all 5 authors...