Ectodermal Dysplasia Skin Fragility Syndrome

Common Name(s)

Ectodermal Dysplasia Skin Fragility Syndrome

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ectodermal Dysplasia Skin Fragility Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ectodermal Dysplasia Skin Fragility Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Ectodermal dysplasia-skin fragility syndrome.
 

Author(s): Vijay S Adhe, Atul M Dongre, Uday S Khopkar

Journal: Indian J Dermatol Venereol Leprol. ;77(4):503-6.

 

Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a ...

Last Updated: 5 Jul 2011

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Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.
 

Author(s): Rui Zheng, Ding-Fang Bu, Xue-Jun Zhu

Journal: Acta Derm. Venereol.. 2005 ;85(5):394-9.

 

Ectodermal dysplasia-skin fragility syndrome is a rare autosomal recessive inherited disease characterized by skin fragility, nail dystrophy and hyperkeratosis of palms and soles. Skin biopsy shows the loss of cell adhesion and the decrease of desmosomes in number and size. Mutations ...

Last Updated: 14 Sep 2005

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Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.
 

Author(s): Vesarat Wessagowit, John A McGrath

Journal: Acta Derm. Venereol.. 2005 ;85(5):386-8.

 

Last Updated: 14 Sep 2005

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ectodermal Dysplasia Skin Fragility Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.