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}.

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
And another 13 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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
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
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
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
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
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
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
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
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.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX