Erythrokeratodermia variabilis

Common Name(s)

Erythrokeratodermia variabilis, Mendes de Costa syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Erythrokeratodermia variabilis" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Erythrokeratodermia variabilis" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Erythrokeratodermia variabilis" returned 11 free, full-text research articles on human participants. First 3 results:

Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.
 

Author(s): Sabine Duchatelet, Alain Hovnanian

Journal: J. Invest. Dermatol.. 2015 Jun;135(6):1475-1478.

 

Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively. In this issue, Boyden ...

Last Updated: 12 May 2015

Go To URL
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
 

Author(s): Lynn M Boyden, Brittany G Craiglow, Jing Zhou, Ronghua Hu, Erin C Loring, Kimberly D Morel, Christine T Lauren, Richard P Lifton, Kaya Bilguvar, Amy S Paller, Keith A Choate

Journal: J. Invest. Dermatol.. 2015 Jun;135(6):1540-1547.

 

Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches ...

Last Updated: 12 May 2015

Go To URL
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
 

Author(s): Emilie Sbidian, Norredine Bousseloua, Laurence Jonard, St├ęphanie Leclerc-Mercier, Christine Bodemer, Smail Hadj-Rabia

Journal: Acta Derm. Venereol.. 2013 Mar;93(2):193-5.

 

Last Updated: 27 Mar 2013

Go To URL

Reviews from the PubMed Database

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

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.