Palmoplantar Keratoderma, Epidermolytic; Eppk

Description

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma (NEPPK ) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1 ) is caused by mutation in the KRT16 gene (OMIM ). Another focal form, FNEPPK2 (OMIM ), is caused by mutation in the TRPV3 gene (OMIM ); mutation in TRPV3 can also cause Olmsted syndrome (OLMS ), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB ) is caused by mutation in the AQP5 gene (OMIM ). The Nagashima type of nonepidermolytic diffuse PPK (PPKN ) is caused by mutation in the SERPINB7 gene (OMIM ).A generalized form of epidermolytic hyperkeratosis (EHK ), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (OMIM ).For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}.

Genes related to Palmoplantar Keratoderma, Epidermolytic; Eppk

KRT9
KRT16
KRT1

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Keratoderma, Epidermolytic; Eppk

Pica
Neoplasm
Nevus
Abnormality of the dentition
Erythema
Clinodactyly
Hyperkeratosis
Hyperhidrosis
Ranula
Palmoplantar keratoderma

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Palmoplantar Keratoderma, Epidermolytic; Eppk Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT9. By Institute for Human Genetics University Clinic Freiburg in Germany. KRT9 Specificity 100 % Genes 34 %
KRT9. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT9 Specificity 100 % Genes 34 %
Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene). By CGC Genetics in Portugal. KRT9 Specificity 100 % Genes 34 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ABCA12, ABHD5, TGM1, CLDN1, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, KRT1, CERS3, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, POMP, LIPN, ST14 Specificity 11 % Genes 67 %
Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KRT9 Specificity 100 % Genes 34 %
Epidermolytic palmoplantar keratoderma. By Centogene AG - the Rare Disease Company in Germany. KRT9 Specificity 100 % Genes 34 %
Ichthyoses and related disorders of cornification Panel. By CeGaT GmbH in Germany. ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...) View the complete list with 45 more genes Panel GTR000522373 complete gene list ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC, JUP, VPS33B, TGM5, KRT14, CDSN, CLDN1, SNAP29, ENPP1, ALOX12B, KRT9, SLC27A4, KRT16, KRT10, NIPAL4, SPINK5, KRT6A, KRT1, TRPV3, SLURP1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, DSG1, AAGAB, KRT6C, KRT17, POMP, GJB4, AQP5, CARD14, CSTA, FLG, GTF2H5, KRT6B, LIPN, ST14, RHBDF2, WNT10A, SERPINB7, ATP2C1 Specificity 5 % Genes 100 %
KRT9. By Fulgent Genetics Fulgent Genetics in United States. KRT9 Specificity 100 % Genes 34 %
Ichthyosis Panel. By Blueprint Genetics in Finland. ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5 , (...) View the complete list with 11 more genes Panel GTR000552691 complete gene list ABCA12, ABHD5, ALDH3A2, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC2, GJB3, MBTPS2, EBP, GJA1, CDSN, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, GJB4, MPLKIP, FLG Specificity 7 % Genes 67 %
Palmoplantar Keratoderma Panel. By Blueprint Genetics in Finland. DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...) View the complete list with 5 more genes Panel GTR000561524 complete gene list DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17, GJB4, AQP5, KRT6B, WNT10A, SERPINB7 Specificity 12 % Genes 100 %
Epidermolytic palmoplantar keratoderma. By Bioarray in Spain. KRT9 Specificity 100 % Genes 34 %
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC. By Laboratorio de Genetica Clinica SL in Spain. KRT9, KRT1 Specificity 100 % Genes 67 %
Epidermolytic Palmoplantar Keratoderma, Sequencing KRT9 Gene. By Reference Laboratory Genetics in Spain. KRT9 Specificity 100 % Genes 34 %
Epidermolytic Palmoplantar Keratoderma, Sequencing Exons (1,6) KRT9 Gene. By Reference Laboratory Genetics in Spain. KRT9 Specificity 100 % Genes 34 %
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes. By Reference Laboratory Genetics in Spain. ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR , (...) View the complete list with 13 more genes Panel GTR000559649 complete gene list ABCA12, PHYH, GJB2, PEX7, SUMF1, TGM1, ERCC3, GJB3, EBP, TGM5, CLDN1, SNAP29, ALOX12B, KRT9, SLC27A4, KRT10, NIPAL4, SPINK5, KRT1, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, POMP, GJB4, MPLKIP, FLG, GTF2H5, LIPN, ST14 Specificity 7 % Genes 67 %
Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. KRT9, KRT16, KRT10, KRT1, TRPV3, AQP5 Specificity 50 % Genes 100 %
KRT16. By Institute for Human Genetics University Clinic Freiburg in Germany. KRT16 Specificity 100 % Genes 34 %
KRT16. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT16 Specificity 100 % Genes 34 %
KRT16. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT16 Specificity 100 % Genes 34 %
KRT16. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT16 Specificity 100 % Genes 34 %
Palmoplantar keratoderma, nonepidermolytic, focal. By Centogene AG - the Rare Disease Company in Germany. KRT16 Specificity 100 % Genes 34 %
Pachyonychia congenita type 1. By Centogene AG - the Rare Disease Company in Germany. KRT16 Specificity 100 % Genes 34 %
Single gene testing KRT16. By CeGaT GmbH in Germany. KRT16 Specificity 100 % Genes 34 %
KRT16. By Fulgent Genetics Fulgent Genetics in United States. KRT16 Specificity 100 % Genes 34 %
Pachyonychia Congenita Panel. By Blueprint Genetics in Finland. KRT16, KRT6A, TRPV3, AAGAB, KRT6C, KRT17, KRT6B Specificity 15 % Genes 34 %
Epidermolytic palmoplantar keratoderma. By Bioarray in Spain. KRT16 Specificity 100 % Genes 34 %
Pachyonychia congenita type 1. By Bioarray in Spain. KRT16 Specificity 100 % Genes 34 %
Thost-Unna palmoplantar keratoderma. By Bioarray in Spain. KRT16 Specificity 100 % Genes 34 %
PACHYONYCHIA CONGENITA. By Laboratorio de Genetica Clinica SL in Spain. KRT16, KRT6A, KRT17, KRT6B Specificity 25 % Genes 34 %
PALMOPLANTAR KERATODERMA, NON-EPIDERMOLYTIC. By Laboratorio de Genetica Clinica SL in Spain. KRT16, KRT6C Specificity 50 % Genes 34 %
Pachyonychia Congenita Type 1, Sequencing KRT16 Gene. By Reference Laboratory Genetics in Spain. KRT16 Specificity 100 % Genes 34 %
Pachyonychia Congenita , Panel Massive Sequencing (NGS) KRT6A, KRT6B, KRT16, KRT17 Genes. By Reference Laboratory Genetics in Spain. KRT16, KRT6A, KRT17, KRT6B Specificity 25 % Genes 34 %
Pachyonychia Congenita: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. KRT16, KRT6A, KRT6C, KRT17, KRT6B Specificity 20 % Genes 34 %
KRT1. By Institute for Human Genetics University Clinic Freiburg in Germany. KRT1 Specificity 100 % Genes 34 %
KRT1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT1 Specificity 100 % Genes 34 %
KRT1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT1 Specificity 100 % Genes 34 %
KRT1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT1 Specificity 100 % Genes 34 %
KRT1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KRT1 Specificity 100 % Genes 34 %
Epidermolytic hyperkeratosis (sequence analysis of KRT1 gene). By CGC Genetics in Portugal. KRT1 Specificity 100 % Genes 34 %
Epidermolysis bullosa (NGS panel for 18 genes). By CGC Genetics in Portugal. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1 Specificity 6 % Genes 34 %
Epidermolytic Hyperkeratosis via KRT1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KRT1 Specificity 100 % Genes 34 %
Ichthyosis Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...) View the complete list with 8 more genes Panel GTR000559102 complete gene list ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4, CSTA, FLG, LIPN, ST14, CASP14, SULT2B1, SERPINB8, KDSR Specificity 4 % Genes 34 %
Ichthyosis NGS panel. By Connective Tissue Gene Tests in United States. ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...) View the complete list with 8 more genes Panel GTR000559155 complete gene list ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4, CSTA, FLG, LIPN, ST14, CASP14, SULT2B1, SERPINB8, KDSR Specificity 4 % Genes 34 %
Ichthyosis Comprehensive panel. By Connective Tissue Gene Tests in United States. ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4 , (...) View the complete list with 8 more genes Panel GTR000559165 complete gene list ABCA12, TGM1, GJB3, GJA1, TGM5, CHST8, CDSN, ALOX12B, KRT10, NIPAL4, KRT1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, POMP, GJB4, CSTA, FLG, LIPN, ST14, CASP14, SULT2B1, SERPINB8, KDSR Specificity 4 % Genes 34 %
Epidermolytic hyperkeratosis. By Centogene AG - the Rare Disease Company in Germany. KRT1 Specificity 100 % Genes 34 %
Genetic Epidermolyses and blistering disorders Panel. By CeGaT GmbH in Germany. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1 Specificity 6 % Genes 34 %
KRT1. By Fulgent Genetics Fulgent Genetics in United States. KRT1 Specificity 100 % Genes 34 %
Epidermolysis Bullosa Panel. By Blueprint Genetics in Finland. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1 , (...) View the complete list with 4 more genes Panel GTR000552663 complete gene list KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1, KRT1, DSG1, DSG4, ATP2C1 Specificity 5 % Genes 34 %
Bullous congenital ichthyosiform erythroderma. By Bioarray in Spain. KRT1 Specificity 100 % Genes 34 %
Epidermolytic palmoplantar keratoderma. By Bioarray in Spain. KRT1 Specificity 100 % Genes 34 %
Keratosis palmoplantaris striata III. By Bioarray in Spain. KRT1 Specificity 100 % Genes 34 %
Thost-Unna palmoplantar keratoderma. By Bioarray in Spain. KRT1 Specificity 100 % Genes 34 %
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL. By Laboratorio de Genetica Clinica SL in Spain. KRT10, KRT1 Specificity 50 % Genes 34 %
ICHTHYOSIS, EPIDERMOLYTIC. By Laboratorio de Genetica Clinica SL in Spain. KRT10, KRT1 Specificity 50 % Genes 34 %
EPIDERMOLISIS BULLOSA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1 Specificity 5 % Genes 34 %
Epidermolytic Palmoplantar Keratoderma, Sequencing KRT1 Gene. By Reference Laboratory Genetics in Spain. KRT1 Specificity 100 % Genes 34 %
Epidermolytic Palmoplantar Keratoderma, Sequencing Exons (1,7) KRT1 Gene. By Reference Laboratory Genetics in Spain. KRT1 Specificity 100 % Genes 34 %

Alternate names

Palmoplantar Keratoderma, Epidermolytic; Eppk Is also known as ppke, keratoderma, epidermolytic palmoplantar, palmoplantar keratoderma, vorner type, hyperkeratosis, localized epidermolytic, keratosis palmaris et plantaris familiaris, tylosis, keratosis of greither;diffuse erythrodermic palmoplantar keratoderma, voerner type; diffuse erythrodermic palmoplantar keratoderma, vörner type; eppk; epidermolytic palmoplantar keratoderma of voerner; epidermolytic palmoplantar keratoderma of vörner.

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