Author: Jade Nutting, Stage 3 medical student, University of Sydney, Sydney, Australia. DermNet NZ Editor-in-chief: Adjunct Assoc. Prof. Amanda Oakley, Dermatologist, Hamilton, New Zealand. December 2018.
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 .
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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.
Genealogical studies of affected South African families have identified a common ancestor, Captain Francois Renier Duminy, an 18th century Frenchman who settled in the Cape of Good Hope . Sporadic cases have also been reported.
The keratolytic winter erythema gene locus has been mapped to chromosome 8p23.1-p22 . A recent genomic study has proposed a causative genetic variant being a duplicated enhancer region upstream of CTSB, a gene important in keratinocyte differentiation and desquamation .
Variable triggering environmental factors may disrupt the balance of CTSB and its regulatory factors to increase levels of CTSB (cathepsin B), a lysosomal protease in the epidermis, and trigger apoptosis (cell death) .
Keratolytic winter erythema usually presents between infancy and early adulthood and continues with an intermittent and recurrent pattern . It ranges in severity with cyclical skin peeling and underlying erythema affecting the palms of hands and soles of the feet .
Some patients with keratolytic winter erythema also develop annular erythema on the limbs, buttocks, or trunk; with one reported case of facial involvement .
Aggravating factors may include:
Keratolytic winter erythema can improve in summer and during pregnancy .
Active flares of keratolytic winter erythema can be disabling in severe cases.
The diagnosis of keratolytic winter erythema may be evident clinically and supported by positive family history.
Skin biopsy shows characteristic histopathology with basal keratinocyte proliferation and defective layers of the stratum corneum .
Depending on the phase of the lesion, the differential diagnosis of keratolytic winter erythema may include :
There is currently no established effective treatment for keratolytic winter erythema.
Topical keratolytics, retinoids and steroids may aggravate keratolytic winter erythema . Photodynamic therapy has shown disease-modifying results in one patient .
Keratolytic winter erythema typically improves or even clears during the summer months . It also tends to improve with age where there may be only minimal scaling in the creases in adulthood . In some severely affected individuals, it will persist .
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