Palmoplantar keratoderma and erythrokeratodermas


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 Inclusion criteria:

Diagnosis of one of the following confirmed by consultant dermatologist:

  • Diffuse palmoplantar keratoderma
  • Focal keratoderma with or without nail involvement
  • Pachyonychia congenita phenotype (focal keratoderma with pain and dystrophic nails, oral leukokeratosis and or follicular hyperkeratoses/cysts).
  • Punctate keratoderma
  • Striate keratoderma alone
  • Striate keratoderma with woolly hair
  • Keratoderma with deafness
  • Unusual/unique rare keratodermas occuring alone or as part of
  • Erythrokeratoderma

 Exclusion criteria:

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  •  Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • Diffuse palmoplantar keratoderma: KRT9 and KRT1
  • Focal keratoderma: KRT16 and KRT6C
  • Pachyonychia congenital: KRT6A, KRT6B, KRT6C, KRT16 and KRT17
  • Striate keratoderma: KRT1 and KRT16
  • Striate keratoderma with woolly hair: cardiac panel including desmosomal genes
  • Keratoderma with deafness: GJB2

 Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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