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Keratolytic winter erythema

 Keratolytic winter erythema



Overview

Keratolytic winter erythema is a rare inherited skin disorder characterised by recurrent palmoplantar erythema and peeling that is often worse in winter months. It is also known as Oudtshoorn disease and erythrokeratolysis hiemalis.

Keratolytic winter erythema was first described in 1977 by dermatologists in South Africa who observed a skin condition prevalent in families in the Oudtshoorn area of Western Cape 

The prevalence of keratolytic winter erythema is estimated at 1 in 7,200 white Afrikaans speakers  It is inherited in a monogenic autosomal dominant pattern with high penetrance but variable expressivity. It is usually diagnosed in childhood or early adult life.

Keratolytic winter erythema (KWE) is an extremely rare form of skin shedding that was first described in South Africa but has subsequently been identified in other countries. In such cases, a link to South Africa has NOT been determined. The disorder is characterized by periodic episodes of palmoplantar skin shedding preceded by redness and the appearance of dry superficial blisters. The peel is substantial and may be easily gripped. The peeling is enhanced by exposure to water. Symptoms may improve during pregnancy and with age. The disorder may worsen with cold weather and improve in the summer.

KWE was first described in 1977 by Findlay et al. Many of the Afrikaner families seen could trace their family back to a town in the Western Cape Province of South Africa, called Oudtshoorn, hence the name Oudtshoorn skin or Oudtshoorn disease. In a genealogical study, the condition was traced to Francois Renier Duminy (born 1747 in Lorient, France), a ship captain who settled in South Africa in the late 1700s.

SYMPTOMS

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.

CAUSES

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.

AFFECTED POPULATIONS

In South Africa, families with KWE are scattered throughout the country and some families have emigrated to the UK and to other countries. The condition is much more common in South Africa owing to the founder effect. It affects families of both the white population and those of mixed racial descent. The patients in Germany, Denmark, Norway and the USA do not share the same ancestry.

DISORDERS WITH SIMILAR SYMPTOMS

Conditions causing peeling of the palms and soles include both acquired conditions as well as other familial conditions. In some circumstances, palmoplantar peeling may be an acute phenomenon related to infections or drug reactions and such transient conditions will not be considered further.

Keratolysis exfoliative (KE) is characterized by delicate superficial peeling rings seen on palms and soles. The initial lesion is a small air-filled vesicle which flakes off from the edges. The number of lesions seen is variable. When the tips of the fingers are involved, the peeled skin may be sensitive. The condition may vary with the season, often worsening in the summer. While most cases are sporadic, some families may be affected. Genetic studies are lacking but one study failed to find causative gene variants in the TGM5 gene.

Acral peeling skin syndrome (peeling syndrome 2) has onset at birth or early childhood and persists thoughout life. The superficial peeling is limited to skin on the hands and feet (acral skin). It is bilateral but mostly asymmetric in distribution. This condition is caused by variants in the TGM5 gene.

Peeling syndrome 5 has onset of symptoms between 3-6 months of age. It is characterized by superficial peeling of small areas of dorsal and palmar surfaces of hands and feet with underlying painless erythema. In some patients there is also superficial scaling of forearms and legs as well as diffuse, yellowish, hyperkeratotic thickenings on the palms and soles. The condition is exacerbated by heat, humidity and friction. Mutations in the SERPINB8 gene on chromosome 18q22 have been identified in some patients.

DIAGNOSIS

The diagnosis of KWE is based on the clinical findings of cyclical peeling of skin on the palms and soles and a family history of this condition. In most patients, skin biopsies are not required for the diagnosis. Genetic testing is limited to research laboratories.

STANDARD THERAPIES

Treatment

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.

Type of Doctor Department : Rheumatologists, Dermatologists

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