Erythrokeratodermia variabilis et progressiva: clinical features, molecular insights, and therapeutic perspectives

Nayeli Tatiana Medina España; Martha Castro Carranza; Claudia Baños Segura

doi:10.18203/2320-6012.ijrms20251668

Authors

Nayeli Tatiana Medina España Valentín Gómez Farías General Hospital, Guadalajara, Jalisco, México
Martha Castro Carranza Valentín Gómez Farías General Hospital, Guadalajara, Jalisco, México
Claudia Baños Segura Dr. Eduardo Liceaga General Hospital of Mexico city, Mexico

DOI:

https://doi.org/10.18203/2320-6012.ijrms20251668

Keywords:

Erythrokeratodermia variabilis et progressiva, Genodermatosis, Connexins, GJB3, GJB4, Skin diseases, Hyperkeratosis, Genetic mutations, Targeted therapies

Abstract

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genodermatosis characterized by transient, erythematous patches and persistent hyperkeratotic plaques with a highly variable clinical presentation. As a disorder predominantly linked to pathogenic variants in GJB3 and GJB4, encoding connexin proteins essential for intercellular communication, EKVP highlights the critical role of gap junction integrity in epidermal homeostasis. This article aims to provide a comprehensive overview of EKVP, focusing on its clinical manifestations, pathophysiological mechanisms, and the role of molecular diagnostics in confirming the diagnosis. Additionally, emerging treatment strategies, including targeted therapies and advances in genetic counseling, are discussed. Enhanced understanding of EKVP’s molecular underpinnings has paved the way for innovative therapeutic approaches, offering new hope for affected individuals.

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