What is Keratolytic Winter Erythema?
Keratolytic Winter Erythema also often termed as Oudtshoorn disease, Oudtshoorn skin, and Erythrokeratolysis Hiemalis is a rare form of autosomal dominant skin disease. It is identified as a cyclical disruption of epidermal keratinisation, which predominantly affects the palmoplantar skin, causing patches of thickened skin, redness and peeling of the skin on the soles and palms. The Office of Rare Diseases listed Keratolytic winter erythema as a ‘rare disease.’ It is often known to worsen in winter or cold weather. The name ‘Oudtshoorn skin’ comes from the town of Oudtshoorn in the Western Cape province in South Africa, where the disease was first found and described.
Keratolytic Winter Erythema was first reported to be a unique and rare skin disorder in the year 1977 by George Findlay, a dermatologist and professor. He observed that the disorder occurred in families and was predominantly inherited, which means that on an average, if a parent is affected and carries the gene, then it is likely that their children may inherit the defective gene, and this may persist for every succeeding generation. Erythrokeratolysis Hiemalis, which is reported to be a rare autosomal dominant genodermatosis, was first reported from the Oudtshoorn district of Cape Province in South Africa, hence the term ‘Oudtshoorn skin.’ Other cases found around the world, have often been found to be have ancestral link to the Oudtshoorn cluster.
What Causes Keratolytic Winter Erythema?
Genetics is found to be the leading cause of Keratolytic Winter Erythema, where it was found that the disorder is inherited in an autosomal dominant manner. It is also found that when a parent has Keratolytic Winter Erythema, it is sufficient to cause the disorder if there is one copy of the defective gene. An individual may be found to have developed Keratolytic winter erythema without no family history of the disorder, they could be attributed to a genetic disposition for Keratolytic winter erythema, which could be linked to the Oudtshoorn ancestral line. Keratolytic winter erythema has been found to develop as a result of spontaneous mutation, which would explain why some individuals can be affected with no previous family history.
Beyond genetics and spontaneous mutations, no other cause of the Keratolytic Winter Erythema has been found to date. The only known factor is that the gene, which is responsible for the disease, is located on chromosome 8p23.1-p22. The function of the particular chromosome is still unknown.
What are the Symptoms of Keratolytic Winter Erythema?
Keratolytic Winter Erythema is characterized as a type of genodermatosis, and it is often said to cause annular erythema on face, limbs, trunk and buttocks. Some of the common symptoms are recurrent and intermittent redness on palms and soles, peeling of skin on the palms and soles and in milder cases, clinical reports show that it causes redness and scaling in the web spaces between the fingers and toes, in some cases one might even observe distinct demarcation forming a red boundary around the sole and palm. The red boundary might even appear to be covering the entire palm and sole. One of the early symptom of Keratolytic Winter Erythema is the formation of superficial dry bullae that appear to be well defined or demarcated and localized. The skin may appear significantly opaque right before it starts to dissect to form a somewhat firm and elastic like peeling. The base under the peeling skin is red, while the pattern of the papillary ridges is retained. The peeling in Keratolytic Winter Erythema rarely forms a single large ‘bulla’ that peels off from the palm or the sole. The peeling is more often irregular, peeling from multiple sites. The peeling proceeds outwards starting at the center, which seizes or collects around huge skin creases, causing mild hyperkeratosis that may persist for long periods of time or several weeks. After a duration of days or weeks (which varies for different cases), the entire cycle repeats itself.
Hyperhidrosis, itching and pustulation are some of the associated factors of Annular erythema, which is found to affect face, limbs, buttocks and trunk. The disease is said to be present at birth; however, it may appear in childhood or at the beginning of adult life.
Hyperhidrosis is more common and persistent during both winter and summer, and the stench of the macerated keratin makes the sweat have a distinctive odor. Palms and soles are the most affected areas; however, in some cases an annular erythema affects the dorsum of the hands and forearms and even buttocks. The trunk is rarely affected. The annular spread outwards with a central lamellar scale and circinate peel. The lesion may expand up to 15 mm in size before it begins to heal and the lesion keeps expanding over 4 to 6 weeks. The condition is said to improve with age, with minimal scaling in adulthood.
Who is at Risk for Developing Keratolytic Winter Erythema?
Since Keratolytic Winter Erythema is an autosomal disease, it is predominantly an inherited skin disorder and its penetrance varies. Keratolytic Winter Erythema is thought to be linked to a critical region on chromosome 8p23.1-p22. Genetic studies have been conducted, which focused on the screening of genes in the critical region on the chromosome 8p23.1-p22, however, no pathogenic mutations that were exclusive to Keratolytic Winter Erythema were found.
Farnesyldiphoshpate Farnesyltransferase 1 and cathepsin B genes did not reveal any potentially pathogenic variants, nor did they reveal any distinctly different gene expression in the affected areas of skin. Keratolytic Winter Erythema was found to be prevalent in South Africa, and it was found that 1 in 7000 Afrikaans-speaking Caucasoid population was affected by this disorder.The Afrikaners, who are Afrikaans-speaking Caucasoid descendent from German, Dutch, and French settlers, are said to have a high risk for several such genetic disorders, including porphyria, which is caused due to sensitivity of skin to ultra-violet exposure, and even harmful reactions to certain drugs, and familial hypercholesterolemia, which cause heart attacks quite early in life due to inherited high cholesterol. Some of the disorders are also commonly found in South Africa, as a result of founder mutations which were brought to the country by a group of immigrants who settled in the Cape of Good Hope. Keratolytic Winter Erythema was also found in Germany, however, the occurrence is significantly lower in Germany, and data also revealed that the chromosomes linked with the disorder also have no common origin. Cases found in other countries are found to stem from spontaneous mutation.
What are the Common Keratolytic Agents?
Topical Keratolytics are agents that are used for treating Keratolytic disease such as Keratolytic Winter Erythema. The topical keratolytic agent is applied on the affected area of the skin, which is found to help with the softening of the keratin. The topical keratolytic agents help with the loosening the skin which helps with exfoliation of the skin cells. Topical keratolytics are known to retain and bind moisture, which is also helpful in treating dry skin conditions.
Topical keratolytics commonly contain either of the agents such as salicylic acid, sulphur, podofilox, urea, allantoin, lactic acid, coal tar, pyrithione zinc, and tretinoin.
What is the Treatment for Keratolytic Winter Erythema?
Even though many studies and researches have been conducted to find the most effective treatment for keratolytic diseases; however, no effective treatment has been found to date. Topical steroids are found to be temporary solutions and helpful in only some cases. What is surprising is that in some cases topical steroids have been found to aggravate and worsen the condition. Topical calcipotriol has been observed to have minimized effect. Photodynamic therapy is found to have some modifying effects, but not a lot has been found beyond this. Keratolytic winter erythema is an extremely tricky and complicated disorder to treat, there however seems to be ongoing researches done to find out more about this disorder and effective treatments, until there is any significant breakthrough, effective treatment for keratolytic disease remains unknown.
Other than using topical keratolytic agents and photodynamic therapy, affected individuals are advised to follow a proper skin care regime, using lubricating and emollient products, and avoid bathing or showering in hot water as this might irritate the skin and aggravate Keratolytic Winter Erythema further. During severe inflammation, itching, and redness, topical cortisone can be temporarily used. Alternatively, therapy with vitamin A derivative may be used under severe and separate conditions. Since Keratolytic Winter Erythema worsens in cold environment, under stress, and after a febrile illness, the patients are advised to avoid these conditions, if possible, as these might worsen this skin disorder further.
Prevention of Keratolytic Winter Erythema
Since Keratolytic Winter Erythema is a genetic disorder and there are no known causes beyond genetics and in some cases, spontaneous mutations, there unfortunately, is no known prevention for the disorder. Researches and studies are still being conducted, but there is yet to be any major breakthrough. The only possible prevention would be to find out if there is any family history of Keratolytic Winter Erythema and if there is any family history, then the only plausible preventative steps would be to avoid cold weather, stress on taking good care during and after any febrile illness is always advised by experts. However, it is important to remember that the Keratolytic Winter Erythema improves with age and this keratolytic disease is not known to be life-threatening.
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