Erythrokeratodermia Variabilis Et Progressiva 2; Ekvp2
Description
Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by Richard et al., 2003). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) (van Steensel et al., 2009).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).
Genes related to Erythrokeratodermia Variabilis Et Progressiva 2; Ekvp2
- GJB4
Clinical Features
Phenotypes and symptoms related to Erythrokeratodermia Variabilis Et Progressiva 2; Ekvp2
- Hyperkeratosis
- Erythema
- Palmoplantar keratoderma
- Generalized hyperkeratosis
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Erythrokeratodermia Variabilis Et Progressiva 2; Ekvp2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
GJB4.
By Institute for Human Genetics University Clinic Freiburg (Germany).
GJB4
Specificity
100 %
Genes
100 % |
Connexin Gene Testing.
By GeneDx (United States).
GJB4
Specificity
100 %
Genes
100 % |
Erythrokeratodermia variabilis, Mendes da Costa type (sequence analysis of GJB4 gene).
By CGC Genetics (Portugal).
GJB4
Specificity
100 %
Genes
100 % |
Ichthyosis Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Ichthyosis NGS panel.
By Connective Tissue Gene Tests (United States).
ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Ichthyosis Comprehensive panel.
By Connective Tissue Gene Tests (United States).
ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Erythrokeratodermias and related disorders Comprehensive panel.
By Connective Tissue Gene Tests (United States).
DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
17 %
Genes
100 % |
Erythrokeratodermias and related disorders NGS panel.
By Connective Tissue Gene Tests (United States).
DSP, KDSR, GJA1, GJB4, KRT83, LOR
Specificity
17 %
Genes
100 % |
You can get up to 14 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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