Erythrokeratodermia variabilis

Common Name(s)

Erythrokeratodermia variabilis, Mendes de Costa syndrome

Description for this condition is not yet available.
 

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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

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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 "Erythrokeratodermia variabilis" returned 12 free, full-text research articles on human participants. First 3 results:

Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva.
 

Author(s): Noriko Umegaki-Arao, Takashi Sasaki, Harumi Fujita, Satomi Aoki, Kaori Kameyama, Masayuki Amagai, Mariko Seishima, Akiharu Kubo

Journal: J. Invest. Dermatol.. 2017 04;137(4):967-970.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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 "Erythrokeratodermia variabilis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.