1. Mendelian
  2. Rare Diseases
  3. KERATOLYTIC WINTER ERYTHEMA; KWE

Keratolytic Winter Erythema

Table of contents:

Description

Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.

Genes related to Keratolytic Winter Erythema

  • CTSB

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Keratolytic Winter Erythema

  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Abnormal blistering of the skin
  • Epidermal acanthosis
  • Inflammatory abnormality of the skin
  • Pustule
  • Palmoplantar erythema

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

Keratolytic Winter Erythema Is also known as oudtshoorn disease, oudtshoorn skin disease, erythrokeratolysis hiemalis.

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.

Keratolytic Winter Erythema Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CTSB.

By Fulgent Genetics Fulgent Genetics (United States).

CTSB
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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