Palmoplantar Keratoderma, Bothnian Type; Ppkb

Description

Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (OMIM ).For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).

Clinical Features

Phenotypes and symptoms related to Palmoplantar Keratoderma, Bothnian Type; Ppkb

  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Palmoplantar keratoderma
  • Diffuse palmoplantar keratoderma

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Palmoplantar Keratoderma, Bothnian Type; Ppkb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AQP5.

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

AQP5
Specificity
100 %
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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 %
AQP5.

By Fulgent Genetics Fulgent Genetics (United States).

AQP5
Specificity
100 %
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 %
Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics (Spain).

TRPV3, AQP5, KRT1, KRT10, KRT16, KRT9
Specificity
17 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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