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Granulocyte-dependent Autoantibody-induced Skin Blistering

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Published on: October 12, 2012

[Erythrokeratodermia variabilis].

P Bilan¹, A Levy, C Sin

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

This summary is machine-generated.

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.

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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.