SMJ Current Issue

Erythrokeratoderma variabilis
  Iqbal A Bukharie,  Nawal A Juma`ae
Saudi Medical Journal 2003; Vol.  (11): 1264-1266 doi:


Erythrokeratoderma variabilis (EKV) is an autosomal dominant genodermatosis of variable expressivity but sporadic cases are not infrequently reported. The term EKV was first used by Mendes da Costa1 and almost 150 cases were reported in the literature mostly from Europe.2 The condition usually manifests in the first year of life and clinically consists of 2 main components: erythematous patches and hyperkeratotic plaques with particular propensity to affect extensor sites. The hyperkeratosis is a constant feature and tend to be confluent and well demarcated while the erythema tend to be transient persisting for hours to few days and related to environmental changes and emotional upsets.3P>

Case Report.B>FONT> FONT>A 17-year-old girl originally from the Northern part of Kingdom of Saudi Arabia presented to our dermatology clinic with the chief complaint of a thick dry skin involving the whole body. According to her mother, the condition started one week after birth when she noticed redness of the skin of her daughter over both hands, which soon after involved the diaper area. Few days later, the skin became thickened involving the whole body with predilection to extensor surfaces, elbow, knees, groins and face with on and off appearance of red patches at different areas of the body. This was associated with marked thickening of the palms and sole. The patient continued to develop these lesions until puberty when it became stable by this presentation except for the red patches, which changed during summer months. There was no history of nail or hair changes and none of her parents or siblings had similar condition. There was no history of consanguinity.P>

On examination, widespread irregularly shaped hyperkeratotic plaques distributed over the whole body mainly on the extensor surfaces of the upper limbs, lower limbs, elbows and knees (Figure 1). Besides, there were sharply demarcated brightly erythematous scaly geographic patches, which vary in size from few to many centimeters that ran independent of the hyperkeratotic plaques. There was also marked palmoplantar keratoderma (Figure 2). The hair, nails and teeth were entirely normal. Skin punch biopsy was taken from the hyperkeratotic lesion, which showed marked orthohyperkeratosis, prominent stratum granulosum, acanthosis and perivascular mononuclear cell infiltrate (Figure 3). The diagnosis of EKV was established. Since the patient was only concerned with her asymptomatic dry skin, she chose to use emollients and keratolytics and not to take oral retinoids. P>

Discussion. B>Erythrokeratoderma variabilis is a rare genetic disorder, which has 2 characteristic distinctive morphological features: erythema and hyperkeratosis.3 Its pathogenesis is unclear but many theories suggested that it represents a systemic ectodermal vascular dysplasia, which leads to disturbance in the keratinization process.4,5 While Cram6 believed that, since the 2 components are separate, a unique genetic disturbance of both cutaneous vasculature and epidermis is operative. Most authors consider EKV as a retention-type hyperkeratosis supported by the lack of evidence of increased epidermal proliferation.7 The condition mode of inheritance is basically an autosomal dominant with variable expressivity but autosomal recessive cases have been rarely reported.8 Clinically, the figurate sharply defined erythematous patches change their shape and distribution within minutes, hours or days. The hyperkeratotic plaques have a striking geographic outlines and arise independently on normal skin or on areas of persistent erythema. Affected sites include the face, buttocks and extensors of the limbs in symmetrical manner. Cold, wind, sunlight and emotional upsets can aggravate the erythema.9 There may be palmoplantar keratoderma but mucus membranes, hair, nails and teeth are normal


From the Department of Dermatology (Bukhari), College of Medicine, King Faisal University, Dammam and the Department of Dermatology (Juma’a), Armed Forces Hospital of King Abdul-Aziz Airbase, Dhahran, Kingdom of Saudi Arabia.P>

Received 18th May 2003. Accepted for publication in final form 9th August 2003.P>

Address correspondence and reprint request to: Dr. Iqbal A. Bukhari, Assistant Professor, Department of Dermatology, King Fahad Hospital of the University. PO Box 40189, Al-Khobar 31952, Kingdom of Saudi Arabia. Tel. +966 (3) 8957886. Fax. +966 (3) 8949209. E-mail: consultant@dermatologyclinics.netP>



1. Mendes da Costa S. Erythro-et keratoderma variabilis in a mother and daughter. Acta Dermatolo Venereol (Stockh) 1925: 6; 255-261.P>

2. Spitz JL. Genodermatoses: A Full-Color Clinical Guide to Genetic Skin Disorders. NewYork (NY): Williams & Wilkins; 1996. p. 24-25.P>

3. Papadavid E, Koumantaki E, Dawber R. Erythrokeratoderma Variabilis: case report and review of the literature. J Eur Acad Dermatol Venereol 1998: 11; 180-183.P>

4. Gans O, Koch AG. Zur Kenntes der erthrokeratitischen phakomatosen (erythrokeratoderma-congenitum symmetricum progressivum Typus variabilis. Mendes da Costa). Hautartz 1951; 2: 889-892.P>

5. Gertler W. Localisierte erythrokeratdermien. Dermatol Wochenscher 1957; 136: 1257-1272.P>

6. Cram DL. Erythrokeratodermia variabilis and variable circinate erythrokeratodermas. Arch Dermatol. 1970; 101: 68-73.P>

7. McFadden N, Oppedal Br, Ree K, Brandtzaeg P. Erythrokeratodermia variabilis: immunohistochemical and ultrastructural studies of the epidermis. Acta Dermatol Venereol (Stockh) 1987; 67: 284-288.P>

8. Armstrong DKB, Hutchinson TH, Walsh MY, McMillan JC. Autosomal Recessive Inheritance of Erythrokeratoderma Variabilis. Pediatr Dermatol 1997; 14: 355-358.P>

9. Brown J, Kierland RR. Erythrokeratodermia variabilis. Arch Dermatol 1966; 93: 194-210.P>

10. Vandersteen PR, Muller SA. Erythrokeratodermia variabilis: an enzyme histochemical and ultrastructural study. Arch Dermatol 1971; 103: 362-370.P>

11. Rappaport P, Goldes JA, Goltz RW. Erythrokeratodermia variabilis treated with isotretinoin. Arch Dermatol 1986; 122: 441-445.P>

12. Gewirtzman GB, Winkler NW, Dobson RL. Erythrokeratodermia variabilis: a Family study. Arch Dermatol 1978; 114: 259-261.P>

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