Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse; Ppks1

Description

Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). Genetic Heterogeneity of Keratosis Palmoplantaris StriataType II PPKS (PPKS2 ) is caused by mutation in the DSP gene (OMIM ) on chromosome 6.Type III PPKS (PPKS3 ) is caused by mutation in the keratin-1 gene (KRT1 ) on chromosome 12q.For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse; Ppks1

  • Neoplasm
  • Cardiomyopathy
  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy
  • Palmoplantar keratoderma
  • Epidermal acanthosis
  • Woolly hair
  • Onycholysis
  • Hypergranulosis

And another 2 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse; Ppks1 Is also known as kpps1, keratoderma, palmoplantar, striate form i, sppk1, striate palmoplantar keratoderma i, keratosis palmoplantaris striata i.

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.


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Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse; Ppks1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DSG1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

DSG1
Specificity
100 %
Genes
100 %
DSG1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

DSG1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa panel.

By Centogene AG - the Rare Disease Company (Germany).

DST, TGM5, FERMT1, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH (Germany).

SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH (Germany).

VHL, VWF, ADAMTS13, TET2, DSG1, ENTPD1, ETV6, F10, F11, F12, F13A1, F2, F5, F8, SERPINC1, SERPINE1, PDGFRB
Specificity
6 %
Genes
100 %
DSG1.

By Fulgent Genetics Fulgent Genetics (United States).

DSG1
Specificity
100 %
Genes
100 %
Epidermolysis Bullosa Panel.

By Blueprint Genetics (Finland).

DST, TGM5, ATP2C1, FERMT1, CDSN, GRIP1, DSG4, COL17A1, COL7A1, DSG1, DSG2, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT14, KRT5, LAMA3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics (Finland).

WNT10A, SERPINB7, MBTPS2, TRPV3, SLURP1, KRT6C, CTSC, AAGAB, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, AQP5, KRT1, KRT14, KRT16, KRT17 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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