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Keratolytic Winter Erythema: An Update.

Michèle Ramsay1, Thandiswa Ngcungcu1, Wayne Grayson2,3

  • 1Division of Human Genetics, School of Pathology and Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

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Summary

Keratolytic winter erythema (KWE) is a rare genetic skin condition causing red patches and peeling on palms and soles. A gene duplication causes increased cathepsin B, leading to epidermal peeling.

Keywords:
Erythrokeratolysis hiemalisKeratodermaKeratolytic winter erythemaOudtshoorn diseaseSkin

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Area of Science:

  • Dermatology
  • Human Genetics
  • Molecular Biology

Background:

  • Keratolytic winter erythema (KWE) is a rare autosomal dominant genodermatosis.
  • It presents as recurrent erythema and epidermal peeling, primarily affecting palms and soles.
  • KWE exhibits high penetrance with significant clinical variability throughout life.

Purpose of the Study:

  • To elucidate the molecular basis of Keratolytic winter erythema.
  • To understand the genetic cause leading to the characteristic epidermal peeling.
  • To explore potential new therapeutic strategies based on the identified molecular pathology.

Main Methods:

  • Histological examination of KWE lesions.
  • Genetic analysis to identify the causative mutation.
  • Gene expression studies to assess cathepsin B levels.

Main Results:

  • Histology reveals degenerative changes in the Malpighian layer and absence of the stratum granulosum.
  • KWE is caused by a duplication of an intergenic enhancer upstream of the cathepsin B gene on chromosome 8.
  • This duplication leads to upregulated cathepsin B in the stratum granulosum, resulting in epidermal peeling.

Conclusions:

  • The molecular pathology of KWE involves cathepsin B upregulation due to a specific gene duplication.
  • Understanding this mechanism opens avenues for targeted therapeutic interventions.
  • Further research into cathepsin B modulation may lead to effective KWE treatments.