Clinical spectrum of anhidrotic ectodermal dysplasia

Reed, W. B.

doi:10.1001/archderm.102.2.134

Cited by 31 publications

(15 citation statements)

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“…Patients with HED display defective development of hair, teeth, sweat glands, and several exocrine glands, such as sebaceous, salivary, meibomian, and lacrimal [1,24]. To evaluate the relevance of the swh/swh rat as a HED model, we looked for developmental defects in those tissues of swh/swh rats.…”

Section: Resultsmentioning

confidence: 99%

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

et al. 2011

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BackgroundHypohidrotic ectodermal dysplasia (HED) is a congenital disorder characterized by sparse hair, oligodontia, and inability to sweat. It is caused by mutations in any of three Eda pathway genes: ectodysplasin (Eda), Eda receptor (Edar), and Edar-associated death domain (Edaradd), which encode ligand, receptor, and intracellular adaptor molecule, respectively. The Eda signaling pathway activates NF-κB, which is central to ectodermal differentiation. Although the causative genes and the molecular pathway affecting HED have been identified, no curative treatment for HED has been established. Previously, we found a rat spontaneous mutation that caused defects in hair follicles and named it sparse-and-wavy (swh). Here, we have established the swh rat as the first rat model of HED and successfully identified the swh mutation.ResultsThe swh/swh rat showed sparse hair, abnormal morphology of teeth, and absence of sweat glands. The ectoderm-derived glands, meibomian, preputial, and tongue glands, were absent. We mapped the swh mutation to the most telomeric part of rat Chr 7 and found a Pro153Ser missense mutation in the Edaradd gene. This mutation was located in the death domain of EDARADD, which is crucial for signal transduction and resulted in failure to activate NF-κB.ConclusionsThese findings suggest that swh is a loss-of-function mutation in the rat Edaradd and indicate that the swh/swh rat would be an excellent animal model of HED that could be used to investigate the pathological basis of the disease and the development of new therapies.

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Section: Resultsmentioning

confidence: 99%

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

et al. 2011

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“…The alopecia may be partial or total, and residual hair is fine and sparse. The skin tends to be pale, shiny and wrinkled, and atopic eczema is common (9). Body hair is also scanty.…”

Section: Discussionmentioning

confidence: 99%

“…Less eommon features inelude amastia, mental retardation, or syndactyly. Patients with AED have been shown to have a eellular immune hypofunetion eharaeterized by deereased delayed hypersensitivity reaetions and a high ineidenee of atopic dermatitis (4,9).…”

Section: Introductionmentioning

confidence: 99%

Extramedullary Hematopoiesis of the Cranial Dura and Anhidrotic Ectodermal Dysplasia

Sitton

Reimund

1992

Neuropediatrics

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“…[1] This condition is usually an X-linked recessive disorder affecting predominantly males. [2] Mutations in the gene encoding ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in the genes encoding the EDA receptor and (less frequently) the adaptor protein that associates with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED. We are here reporting a classical case of HED with a review of the literature.…”

Section: Introductionmentioning

confidence: 99%

Hypohidrotic ectodermal dysplasia

Agarwal

Gupta

2012

Indian Dermatol Online J

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Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia. The condition is usually an X-linked recessive disorder affecting predominantly males. We are here reporting a classical case of hypohidrotic ectodermal dysplasia with a review of the literature.

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Clinical spectrum of anhidrotic ectodermal dysplasia

Cited by 31 publications

References 0 publications

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

Extramedullary Hematopoiesis of the Cranial Dura and Anhidrotic Ectodermal Dysplasia

Hypohidrotic ectodermal dysplasia

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