Erythrokeratodermia variabilis et progressiva: report of a case series with variants in two genes
DOI:
https://doi.org/10.47196/da.v28i1.2226Keywords:
erythrokeratodermia variabilis et progressiva, connexin 30.3, GJB4, TRPM4Abstract
Cryoglobulinemia erythrokeratodermia variabilis et progressiva is a genodermatosis in most cases that is inherited in an autosomal dominant manner and has variable expressivity. It is mainly produced by pathogenic variants in the GJB3, GJB4 and GJA1 genes. These genes encode the proteins connexin 31, connexin 30.3, and connexin 43, respectively. In addition, cases associated with pathogenic variants in the KDSR, KRT83, TRPM4 and PERP genes have been published to a lesser extent.
Clinically, it is characterized by fixed or migratory erythematous and hyperkeratotic plaques on the skin. In 50% of cases it is accompanied by palmoplantar keratoderma.
The interest of the communication is to present a family with a diagnosis of erythrokeratodermia variabilis et progressiva. The molecular study of one of the patients revealed two variants that may be associated with the disease, one of them in the GJB4 gene not reported in the literature and the other recently published in the TRMP4 gene.
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