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Updated: May 14, 2026
12:23
Granulocyte-dependent Autoantibody-induced Skin Blistering
Published on: October 12, 2012
[Erythrokeratodermia variabilis]
1Service de dermatologie, centre hospitalier Victor-Dupouy, 69, rue du Lieutenant-Colonel-Prudhon, 95100 Argenteuil, France.
Annales De Dermatologie Et De Venereologie
|February 12, 2013
Summary
Erythrokeratodermia variabilis (EKV) is a rare skin disorder. This study highlights two cases, with one showing significant improvement using oral retinoids, suggesting their efficacy in managing EKV symptoms.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by keratinization disorders.
- Mutations in connexin 31 and 30.3 genes on chromosome 1 p34-35 are associated with EKV.
- This report details two pediatric cases of EKV.
Observation:
- Case 1: A 15-month-old boy presented with hyperkeratotic plaques on extremities, axillae, and face since 6 months of age.
- Histopathology revealed acanthosis, papillomatosis, and orthokeratotic hyperkeratosis.
- Case 2: A 10-year-old girl presented with fixed hyperkeratotic plaques and transient erythematous patches since 1 month of age.
Findings:
- Anatomoclinical comparison confirmed EKV in both patients.
- The second patient experienced dramatic improvement within 2 weeks of treatment with acitretin (an oral retinoid).
- EKV is defined by fixed plaques and transient erythematous patches; histopathology is supportive but not definitive.
Implications:
- A typical physical examination and compatible histopathology aid EKV diagnosis.
- Oral retinoids demonstrate rapid effectiveness in managing EKV.
- This study underscores the therapeutic potential of oral retinoids for EKV management.
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