About ichthyosis erythrokeratolysis hiemalis

What is ichthyosis erythrokeratolysis hiemalis?

Erythrokeratolysis hiemalis is an extremely rare form of ichthyosis that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has been determined. The disorder is characterized by periodic attacks of red (erythematous) plaques that are distributed equally on both sides of the body. A layer of skin can be peeled from these plaques. Symptoms usually improve with age. The disorder tends to become worse with the cold weather.

What are the symptoms for ichthyosis erythrokeratolysis hiemalis?

Cyclical patchy redness and thickening of the skin of the palms and soles symptom was found in the ichthyosis erythrokeratolysis hiemalis condition

KWE is characterized by the cyclical patchy Redness and thickening of the skin of the palms and soles, followed by the appearance dry Blisters which subsequently peel in an expanding pattern. The shedding skin has a thickish peel. The revealed surface skin appears glazed. These signs first appear during infancy or childhood and the disorder usually improves with age. The condition may be worsened by cold weather or episodes of fever. Secondary infection may complicate the condition. In some patients, slowly enlarging circular Red patches may develop, usually on the extremities. These slowly expand and have a trailing edge of peeling. Other frequently encountered associated symptoms include itching, excessive Sweating (hyperhidrosis or palmoplantar sweating) and a strong unpleasant odor.

What are the causes for ichthyosis erythrokeratolysis hiemalis?

KWE is inherited and follows an autosomal mode of inheritance with males and females equally affected. It has been found to be associated with a duplication of an area of a chromosome that included an element known as an enhancer. This ‘switches on’ a nearby gene or genes. One of these appears to be the gene CTSB which is has been shown to be overexpressed. The protein produced by this gene is cathepsin B. This is an enzyme that plays an important role in proteolysis (breakdown of proteins) causing a major disruption to the epidermal cell’s normal growth and development. These damaged cells fail to mature properly and are pushed outwards, still retaining their nuclei and this forms the peel.

Furthermore, two different duplications have been discovered. The duplication found in the South African families is 7.67-kb in length while the duplication in Norwegian families is 15.93-kb. Both duplications overlap in the region of the enhancer. The genetic variation has not been determined for the families with KWE reported from Germany, Denmark or the USA.

What are the treatments for ichthyosis erythrokeratolysis hiemalis?

There is currently no effective treatment for KWE. Topical steroids (anti-inflammatory preparation used to control many skin conditions) and retinoids (chemical compounds that are analogs of vitamin A) might help a little, but they can also aggravate it. Topical calciprotriol (a form of vitamin D) might also have minimal effect. Systemic steroids (anti-inflammatory derivatives of cortisol) have temporally resolved the circular lesions in a single patient. Measures to control sweating may be helpful. Photodynamic therapy has been used successfully in one patient.

What are the risk factors for ichthyosis erythrokeratolysis hiemalis?

Ichthyosis erythrokeratolysis hiemalis is a very rare ichthyosis foam that is described in firstly South Africa and then identified in other countries with a determined link to south Africa.

  • Ichthyosis erythrokeratolysis hiemalis, called KWE, is an inherited disease and follows an autosomal mode of inheritance equally to males and females.
  • It is associated with duplication of an area of a chromosome that includes an element known as enhancer switches on nearby genes.
  • One of these appears to be the gene CTSB which is has been shown to be overexpressed.
  • Cathepsin B is the protein produced by this gene, and this plays a role in breaking down the cells of protein, causing a major disruption to the epidermal cell’s normal growth and development.
  • These damaged cells fail to mature properly and are pushed outwards.
  • After that, two more duplications are founded in south African families and Norwegian families.
  • In South African families, the length of duplication is 7.67-kb, while in Norwegian families, the length of duplication is 15.93-kb, these both duplications overlap in the region of the enhancer.


Symptoms
Cyclical patchy redness and thickening of the skin of the palms and soles, followed by the appearance dry blisters which subsequently peel in an expanding pattern,Slowly enlarging circular red patches may develop, usually on the extremities,Itching, excessive sweating (hyperhidrosis or palmoplantar sweating) and a strong unpleasant odor
Conditions
A rare form of skin shedding,Redness,Appearance of dry superficial blisters
Drugs
Topical steroids,Retinoids,Topical calciprotriol (a form of vitamin D),Systemic steroids,Photodynamic therapy

Is there a cure/medications for ichthyosis erythrokeratolysis hiemalis?

There is no cure for Ichthyosis erythrokeratolysis hiemalis.
Certain medications may be helpful, but effective treatments are not there.

  • Medications such as Topical steroids are prescribed to control the condition of the skin. This is anti-inflammatory.
  • Chemical compounds such as retinoids can also help. Topical calciprotriol is a form of vitamin D, this is prescribed but it has less effect. Circular lesions occur in patients with ichthyosis erythrokeratolysis hiemalis and so doctors may give systemic steroids that are anti-inflammatory derivatives of cortisol to temporarily resolve this.
  • Various measures to control sweating can also help. Some of the patients with ichthyosis erythrokeratolysis hiemalis are treated successfully by photodynamic therapy.
  • As per doctors, many symptoms can be improved with age. The condition of ichthyosis erythrokeratolysis hiemalis is more severe in cold weather, so avoid cold temperatures. Some genetic testing is performed, but that is also limited to research laboratories.


Symptoms
Cyclical patchy redness and thickening of the skin of the palms and soles, followed by the appearance dry blisters which subsequently peel in an expanding pattern,Slowly enlarging circular red patches may develop, usually on the extremities,Itching, excessive sweating (hyperhidrosis or palmoplantar sweating) and a strong unpleasant odor
Conditions
A rare form of skin shedding,Redness,Appearance of dry superficial blisters
Drugs
Topical steroids,Retinoids,Topical calciprotriol (a form of vitamin D),Systemic steroids,Photodynamic therapy

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