Striate Palmoplantar Keratoderma

Description

Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.

Clinical Features

Phenotypes and symptoms related to Striate Palmoplantar Keratoderma

  • Palmoplantar keratoderma
  • Abnormality of the hair
  • Abnormality of the nail

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

Striate Palmoplantar Keratoderma Is also known as keratosis palmoplantaris striata et areata, keratosis palmoplantaris varians of wachters, keratosis palmoplantaris striata.

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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Striate Palmoplantar Keratoderma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT1.

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

KRT1
Specificity
100 %
Genes
34 %
KRT1. Complete sequencing.

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

KRT1
Specificity
100 %
Genes
34 %
KRT1. Complete sequencing.

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

KRT1
Specificity
100 %
Genes
34 %
KRT1. Complete sequencing.

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

KRT1
Specificity
100 %
Genes
34 %
KRT1. Complete sequencing.

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

KRT1
Specificity
100 %
Genes
34 %
Epidermolytic hyperkeratosis (sequence analysis of KRT1 gene).

By CGC Genetics (Portugal).

KRT1
Specificity
100 %
Genes
34 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics (Portugal).

DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
12 %
Genes
67 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC27A4, ST14, TGM1, ALOXE3, ABCA12, CLDN1, POMP, PNPLA1, ABHD5, LIPN, CERS3, CYP4F22, NIPAL4, ALOX12B, AP1S1, KRT1, KRT10, KRT2, KRT9
Specificity
6 %
Genes
34 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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