Dermatology

Erythrokeratolysis heimalis (keratolytic winter erythema, Oudtshoorn disease)

Erythrokeratolysis hiemalis (keratolytic winter erythema, Oudtshoorn disease)

Are You Confident of the Diagnosis?

Characteristic findings on physical examination

Erythrokeratolysis hiemalis (EH) is a very rare epidermal disorder with recurrent, intermittent peeling at palms and soles. sometimes spreading to the interdigital and dorsal part of the hands. 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.

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.

Figure 1.

Palmar erythema and peeling as seen in a patient with erythrokeratolysis heimalis.

Diagnosis confirmation

The differential diagnosis includes epidermolysis bullosa simplex of hands and feet (Weber-Cockayne), keratolysis exfoliativa, and erthrokeratoderma en cocardes.

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 1/7000. 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.

What is the Cause of the Disease?

Etiology

The etiology for EH is unknown.

Pathophysiology

The gene responsible for the disease is located on chromosome 8p22-p23, the function of which is unknown.

Systemic Implications and Complications

There are no known systemic associations.

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.

Urea, tars, antiperspirant ,and oral retinoid have been tried without success.

Optimal Therapeutic Approach for this Disease

None. Bland emolliants like vaseline or Epaderm can be used.

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.

Unusual Clinical Scenarios to Consider in Patient Management

Although the disorder is predominantly a keratoderma, rarely lesions may appear in unusual sites, such as the face.

What is the Evidence?

Findlay, GH, Nurse, GT, Heyl, T. "Keratolytic winter erythema or 'Oudtshoorn skin'". S Af Med J. vol. 52. 1977. pp. 871-4.

(The initial paper that described the condition in detail.)

Puddu, G, Carcassi, GM. "Erythrokeratolisis hiemalis". Esperienze Dermatologiche. vol. 11. 2009. pp. 113-8.

(Review of four cases in one family.)

Degiovanni, CV, Farrant, PBJ, Howell, S. "Keratolytic winter erythema with facial involvement: a novel presentation". Clin Exp Dermatol. vol. 34. 2009. pp. 206-8.

(Case report of an unusual presentation of the disease on the face.)
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