Keratolytic winter erythema

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.

 


What is keratolytic winter erythema?

Keratolytic winter erythema is a rare inherited skin disorder characterised by recurrent palmoplantar erythema and peeling that is often worse in winter months [1]. 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 [2].

Keratolytic winter erythema

 See more images of keratolytic winter erythema.

Who gets keratolytic winter erythema?

The prevalence of keratolytic winter erythema is estimated at 1 in 7,200 white Afrikaans-speakers [1]. 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.

What causes keratolytic winter erythema?

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 [1]. Sporadic cases have also been reported. 

The keratolytic winter erythema gene locus has been mapped to chromosome 8p23.1-p22 [1]. 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 [6].

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) [6].

What are the clinical features of keratolytic winter erythema

Keratolytic winter erythema usually presents between infancy and early adulthood and continues with an intermittent and recurrent pattern [2]. It ranges in severity with cyclical skin peeling and underlying erythema affecting the palms of hands and soles of the feet [6].

  • A flare begins with erythema. This may be annular, and involve the web spaces of the fingers and toes, or the entire palm or sole. The erythema can be transgradient, spreading to the dorsal surfaces of the palms and soles.
  • Erythema is followed by painless superficial dry blisters or opaque-appearing skin which peels centrifugally.
  • Each patch expands over 4-6 weeks before healing [1].
  • The erythema retains the papillary ridge pattern of the fingerprints.
  • Palmoplantar sweating may lead to a pungent odour and increased peeling.

Some patients with keratolytic winter erythema also develop annular erythema on the limbs, buttocks, or trunk; with one reported case of facial involvement [3].

Aggravating factors may include:

Keratolytic winter erythema can improve in summer and during pregnancy [6].

What are the complications of keratolytic winter erythema?

Active flares of keratolytic winter erythema can be disabling in severe cases.

How is keratolytic winter erythema diagnosed?

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 [4].

What is the differential diagnosis for keratolytic winter erythema?

Depending on the phase of the lesion, the differential diagnosis of keratolytic winter erythema may include [5]:

What is the treatment for keratolytic winter erythema?

There is currently no established effective treatment for keratolytic winter erythema.

Topical keratolytics, retinoids and steroids may aggravate keratolytic winter erythema [5]. Photodynamic therapy has shown disease-modifying results in one patient [4].

What is the outcome for keratolytic winter erythema?

Keratolytic winter erythema typically improves or even clears during the summer months [3]. It also tends to improve with age where there may be only minimal scaling in the creases in adulthood [1]. In some severely affected individuals, it will persist [2].

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References

  1. Hull PR, Hobbs A, Aron S, Ramsay M. The elusive gene for keratolytic winter erythema. S Afr Med J 2013; 103: 961–5. DOI: 10.7196/samj.7253. PubMed
  2. Findlay GH, Nurse GT, Heyl T, et al. Keratolytic winter erythema or 'oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa. S Afr Med J 1977; 52(22): 871–4. PubMed
  3. DeGiovanni CV, Farrant PBJ, Howell S, Hull PR, Woollons A. Keratolytic winter erythema with facial involvement: a novel presentation. Clin Exp Dermatol. 2009; 34(2): 206–8. DOI 10.1111/j.1365-2230.2008.02825.x. PubMed
  4. Amin AN, DeGiovanni CV, Farrant PBJ, Hull PR, Woollons A. Photodynamic therapy for the treatment of keratolytic winter erythema. Clin Exp Dermatol. 2011; 36(6): 668–9. DOI: 10.1111/j.1365-2230.2010.03927.x. PubMed
  5. Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D. Rook’s textbook of dermatology, 9th edition. John Wiley & Sons, 2016.
  6. T Ngcungcu, Oti M, Sitek JC, et al. Duplicated enhancer region increases expression of CTSB and segregates with keratolytic winter erythema in South African and Norwegian families. S Afr Med J. 2013 Oct 11; 103: 961–5. DOI: 10.7196/samj.7253. PubMed

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