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Living with Keratolytic winter erythema / Oudtshoorn disease

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Please add the profiles for those who have or had Keratolytic Winter erythema, also known as Oudtshoorn disease


Keratolytic Winter erythema (KWE), also known as erythrokeratolysis hiemalis, Oudtshoorn disease and Oudtshoorn skin, is a rare autosomal dominant skin disease of unknown cause which causes redness and peeling of the skin on the palms and soles. Onset, increased prominence and severity usually occurs during winter. Keratolytic winter erythema is listed as a "rare disease" by the Office of Rare Diseases (ORD)

It is a type of genodermatosis. Annular erythema on limbs, buttocks, trunk and face has been described. Itching, hyperhidrosis and pustulation are associated factors. The disease is usually present at birth, but may begin in childhood or early adult life. Aggravating factors include: febrile illness, cold weater, stress. The condition might improve with age.


The name "Oudtshoorn skin" derives from the town of Oudtshoorn in the Western Cape province of South Africa, where the disorder was first described. It is one of several genetic disorders known to be highly prevalent among the Afrikaner population.

Characteristics

  • KWE is characterized by a number of anomalies affecting the skin. Erythema causes redness of the skin, which is generally associated with inflammation and irritation. Including erythema and hyperkeratosis (thickening of the stratum corneum), naturally occurring keratolytic peeling and scaling, with increased manifestation in winter, are prevailing features of the disorder.
  • Annular erythema on limbs, buttocks, trunk and face has been described. Itching, hyperhidrosis and pustulation are associated factors. The disease is usually present at birth, but may begin in childhood or early adult life.
  • Aggravating factors include: febrile illness, cold weather, stress.
  • The condition might improve with age.
  • In the mildest cases the only clinical evidence is scaling and redness of the web spaces of the fingers and toes. In some cases, there is a well-demarcated red boundary at the upper edge to the sole, or erythema may be observed which often involves the entire palm or sole.
  • The initial clinical sign is the formation of superficial dry bullae that may be localised and well defined, or alternatively the skin appears opaque prior to it dissecting off to form a firm elastic peel. The peeling may occur at multiple sites, but rarely a single large ‘bulla’ may form a peel that involves the entire palm. The peeling proceeds centrifugally and is only arrested at major skin creases where a mild hyperkeratosis may persist for several weeks. The base revealed under the peeling skin is again red, while the papillary ridge pattern is retained (Fig. 2). After a variable period of time, ranging from days to weeks, the cycle repeats itself.
  • Hyperhidrosis is common during both the summer and winter and the sweat is often described as having a distinctive odour, which may be no more than the stench of macerated keratin. Although the palms and soles are most frequently affected, in some cases an annular erythema is noted involving the dorsum of the hands and forearms as well as the lower extremities including the buttocks. The trunk is only very rarely affected. These annular or rosette-like lesions have an outer expanding edge with a trailing circinate peel and central lamellar scale. They may expand over a period of 4 - 6 weeks reaching up to 15 mm in size before healing. The condition improves with age and in adulthood only minimal scaling may be noted that is confined to the creases.

Pathophysiology

  • KWE is of unknown cause, as at the present time, no specific mutation of any gene has been established as the cause of the disorder. Research has shown, however, that the gene involved is located on human chromosome 8.

Genetics

  • KWE is inherited in an autosomal dominant manner. This means that the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder.

Epidemiology

  • Oudtshoorn is a town in Western Cape (formerly Cape Province), South Africa, where KWE ("Oudtshoorn skin") was first described. The disorder is quite prevalent among Afrikaners of South Africa, a population which can be defined as caucasoid native-speakers of Afrikaans, with northwestern European lineage. Among this group, KWE occurs at a rate of approximately 1 in 7,200.
  • This relatively high rate of occurrence has been attributed to the founder effect, in which a small, often consanguinous population is formed out of the larger ancestral population, resulting in a loss of genetic diversity. In the context of KWE, the founder effect was confirmed by haplotype analysis, which indicates that the chromosomal origin of a possible genetic mutation responsible for the disorder is particularly common among affected Afrikaners. This is also true in other South Africans of European descent with KWE, and the chromosome of interest in both these and Afrikaner patients strongly points to an unspecified ancestor or ancestral group that may have settled around the Oudtshoorn area.
  • A second lineage known to exhibit KWE has been reported in Germany, although there it is less prevalent and appears to involve the chromosome from a different ancestral origin than that seen in Afrikaners. KWE has also been noted in other countries around the northwestern region of Europe, such as Denmark.

Expected results of diagnostic studies

  • Biopsies from the advancing edge of a lesion demonstrate an epidermis with focal cellular edema, necrobiosis of the Malpighian layer, and absence of the granular layer (Figure 1). Clefting occurs within the stratum corneum and the necrobiotic Malpighian layer becomes sandwiched within the hyperkeratotic stratum corneum. There is also hyperproliferation af the basal layer.

Who is at Risk for Developing this Disease?

  • EH is an autosomal dominantly inherited skin disorder with variable penetrance, linked to chromosome 8p22-p23. Families in South Africa and Germany have been discribed; the disease has also been described in single patients in other countries. There is a strong evidence for the occurence of founder effect in the South Afican group of patients.
  • The prevalence of EH in South Africa among the Afrikaans-speaking Caucasoid population is 1 in 7000. The prevalence is lower in Germany and data suggests that the chromosomes involved do not have a common origin. Cases in other countries are thought to be a result of a spontaneous mutation.

Treatment Options

  • There is no effective treatment. Topical steroids and retinoids are of little or no effect and might aggravate it. Topical calciprotriol might have minimal effect. Although there is still no effective treatment, photodynamic therapy has a disease-modifying effect, but needs to be better understood. KWE remains a genetic and molecular riddle to be solved.
  • Urea, tars, antiperspirant ,and oral retinoid have been tried without success.
  • Moisturizers should be used freely. For periods of severe inflammation-red, elevated and itchy topical cortisone may be used for a short while. Therapy with a vitamin A derivative=neotigason may be considered in desperate circumstances. KWE tends to improve with age. There is no curative treatment.

Patient Management

  • Patients should be reminded that the disease may be aggravated by stress, a cold environment, or after a febrile illness. If possible, it would be best to avoid these conditions.
  • Genetic counseling is warranted.
  • It should also be explained that the disorder tends to improve with age.
  • Keratolytic winter erythema is not known to be life-threatening.

History:

  • KWE was first described as a unique and discrete skin disorder in 1977 by Wits dermatologist, Professor George Findlay. He noticed that it occurred in families and had a dominant mode of inheritance - i.e., on average, if a parent has the condition about half the children inherit it in every generation.
  • Afrikaners are Afrikaans-language speakers descended from predominantly Dutch, German and French settlers, who arrived in South Africa in the 17th and 18th centuries. Afrikaners have a high risk for several genetic disorders, the best known being familial hypercholesterolaemia (inherited high cholesterol leading to heart attacks early in life) and porphyria (sensitivity of the skin to ultra-violet exposure and adverse reactions to specific drugs). Oudtshoorn is a town in the Western Cape province of South Africa where the disorder was present in large families.
  • Erythrokeratolysis hiemalis is described as a rare autosomal dominant genodermatosis as first reported from the Oudtshoorn district of Cape Provence in South Africa, among European immigrant families. Sporadic cases have since been identified in other countries, often with a familial link to the Oudtshoorn cluster.
  • These disorders are common because of founder mutations brought to South Africa by small groups of immigrants who settled in the Cape of Good Hope and whose descendants are now spread throughout the country. KWE is one of these less well-known founder genetic disorders.

For Further Reading: