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Year : 2016  |  Volume : 17  |  Issue : 2  |  Page : 145-147

Erythrokeratodermia variabilis

Department of Dermatology, Venereology and Leprosy, BYL Nair Charitable Hospital and T. N. Medical College, Mumbai, Maharashtra, India

Date of Web Publication30-Mar-2016

Correspondence Address:
Dipti Das
Flat No. 706, E Wing, Trans Residency 1, Subhash Nagar, MIDC, Road 23, Andheri East, Mumbai - 400 093, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.172469

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Erythrokeratodermia variabilis is a rare keratinization disorder characterized by two types of skin lesions, stationary hyperkeratotic scaly plaques, and migratory erythematous bizarre patches. Herein, we report a case of a 5-year-old female child who presented with pruritic well-defined, reddish brown hyperkeratotic plaques on trunk, axillae, neck, and extremities in bilaterally symmetrical distribution and had shown excellent improvement with isotretinoin.

Keywords: Erythrokeratodermia variabilis, isotretinoin, keratinization disorder

How to cite this article:
Kadam A, Tambe SA, Das D, Nayak CS. Erythrokeratodermia variabilis. Indian J Paediatr Dermatol 2016;17:145-7

How to cite this URL:
Kadam A, Tambe SA, Das D, Nayak CS. Erythrokeratodermia variabilis. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Oct 30];17:145-7. Available from: https://www.ijpd.in/text.asp?2016/17/2/145/172469

  Introduction Top

Erythrokeratodermia variabilis (EKV), first described by Mendes de Costa in 1925, is a rare genetic ichthyosiform disorder.[1] It is characterized by two types of cutaneous lesions, erythematous patches that assume well-demarcated bizarre geographic configurations and hyperkeratotic plaques with the generalized distribution.[2]

  Case Report Top

A 5-year-old female child, born of nonconsanguineous marriage, adequately immunized for her age, was brought by parents with complaints of itchy, red scaly lesions on the body that started at the age of 1-year. The lesions initially appeared on the trunk then sequentially spread to the neck, axillae, and both upper and lower extremities. There was a history of frequent change of size and location of the redness. History of seasonal exacerbation of lesions in winter was present. She was born by normal vaginal delivery at term. History of birth in parchment-like membrane was absent. No history of atopy was present. None of the family members had similar complaints.

Cutaneous examination revealed multiple well-demarcated, reddish brown, bilaterally symmetrical, hyperkeratotic scaly plaques on the neck, shoulder, axillae, lower abdomen, groin, and back [Figure 1]a and [Figure 1]b. Diffuse erythema and scaling were present on bilateral upper, lower extremities, and face [Figure 1]c and [Figure 1]d. Palms and soles were thickened and hyperlinear. The hair, nails, teeth, and mucous membrane appeared normal. The remainder of the physical examination revealed no abnormalities. Potassium hydroxide examination of scales did not show fungal elements. All hematological and biochemical parameters including serum lipid profile were within normal limits.
Figure 1: (a and b) Multiple well-demarcated, reddish brown, bilaterally symmetrical, hyperkeratotic, scaly plaques on neck, shoulder, axillae, lower abdomen, groin, and back, (c and d) diffuse erythema and scaling on bilateral upper, lower extremities

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A biopsy taken from hyperkeratotic plaque revealed compact orthokeratotic hyperkeratosis, acanthosis, and mild lympho-histiocytic infiltrate in the upper dermis [Figure 2].
Figure 2: Skin biopsy from hyperkeratotic plaque showing compact orthokeratotic hyperkeratosis, acanthosis, and mild lympho-histiocytic infiltrate in the upper dermis (H and E, ×400)

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On the basis of clinical features and histopathology, a diagnosis of EKV was made.

The patient was treated with topical emollients and oral isotretinoin 20 mg daily for 3 months with excellent improvement [Figure 3]. A maintenance dose of 10 mg/day isotretinoin was continued for another 5 months during which patient remained in remission. At present, she is on 10 mg alternate day oral isotretinoin for 4 months without any recurrence.
Figure 3: (a and b) Posttreatment photograph showing almost complete clearance of the lesions on the trunk

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  Discussion Top

EKV is a rare autosomal dominant disorder of keratinization. There is a mutation of the gene GJB3 or GJB4, coding for a gap junction protein connexin 31 and connexin 30.3, respectively.[3],[4]

The disease presents at birth or within 1-year of age. The lesions have two types of morphological features, the first type is stationary hyperkeratotic plaques and the second type is transient erythematous patches. First, the hyperkeratotic plaques are well-defined, relatively fixed in position and have a predilection for the extremities, buttocks, and trunk as found in our case. Second, the transient erythematous patches have a polycyclic configuration that change size and shape over minutes to hours or involute completely. These lesions are more common on the face, buttocks, and extensor surfaces. Both types of lesions may be precipitated by either trauma or changes in temperature.[5] Approximately 50% of patients display a palmoplantar keratoderma associated with peeling.[2]

Rare EKV variants include erythroderma en cocardes, known as Degos' disease, reticulate erythrokeratoderma and EKV with erythema gyratum repens-like lesions.[6],[7],[8] The course of the disease is chronic, with remissions and exacerbations throughout life.

Differential diagnoses considered in our case were EKV, Netherton syndrome, and nonbullous congenital ichthyosiform erythroderma (NBCIE). The absence of linear ichthyotic plaque, atopy, and hair abnormality ruled out netherton syndrome. The absence of collodion membrane at birth, positive history of migratory erythema, and the presence of hyperkeratotic reddish brown plaques on classical sites ruled out NBCIE.

Topical emollients and systemic retinoids such as acitretin or isotretinoin are the first line of treatment.[9],[10] The major advantage to the long-term use of isotretinoin is its short half-life and simplifying dose changes. The recommended starting dose of isotretinoin is 0.5–0.75 mg/kg/day. A response is apparent within 2–3 weeks and the maintenance dose is titrated down to the lowest effective level between 0.1 and 0.5 mg/kg/day. Other topical agents such as salicylic acid, urea, and topical tazarotene are also helpful.

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

Mendes de Costa S. Erythtroetkeratodermia variabilis in a mother and daughter. Acta Derm Venerol 1925;6;255-8.  Back to cited text no. 1
James WD, Berger TG, Elston DM. Genodermatoses and congenital anomalies. In: Andrews' Diseases of the Skin: Clinical Dermatology. 11th ed. UK: Saunders Elsevier; 2011. p. 557.  Back to cited text no. 2
Schnichels M, Wörsdörfer P, Dobrowolski R, Markopoulos C, Kretz M, Schwarz G, et al. The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV). Hum Mol Genet 2007;16:1216-24.  Back to cited text no. 3
Kokotas H, Papagiannaki K, Grigoriadou M, Petersen MB, Katsarou A. Erythrokeratodermia variabilis: Report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. Eur J Dermatol 2012;22:182-6.  Back to cited text no. 4
Strober BE. Erythrokeratodermia variabilis. Dermatol Online J 2003;9:5.  Back to cited text no. 5
Rajagopalan B, Pulimood S, George S, Jacob M. Erythrokeratoderma en cocardes. Clin Exp Dermatol 1999;24:173-4.  Back to cited text no. 6
Itin PH, Moschopulos M, Richard G. Reticular erythrokeratoderma: A new disorder of cornification. Am J Med Genet A 2003;120A: 237-40.  Back to cited text no. 7
Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, et al. Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. Pediatr Dermatol 2002;19:285-92.  Back to cited text no. 8
Singh N, Thappa DM. Erythrokeratoderma variabilis responding to low-dose isotretinoin. Pediatr Dermatol 2010;27:111-3.  Back to cited text no. 9
Balci DD, Yaldiz M. Erythrokeratodermia variabilis: Successful palliative treatment with acitretin. Indian J Dermatol Venereol Leprol 2008;74:649-50.  Back to cited text no. 10
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