Erythrokeratodermia Variabilis Et Progressiva 2; Ekvp2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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

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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 Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 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 Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 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 Panel complete gene list ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1, GJB4, ALOX12B, KRT1, KRT10, KRT2, LOR, SERPINB8 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 %

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Sources and references

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OMIM Genetic Syndrome Finder

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