Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches of erythema, localized or generalized scaling, and frequent palmoplantar keratoderma. By using exome sequencing, we ...

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.

© 2012 The Authors. doi: 10.2340/00015555-1436 Journal Compilation © 2012 Acta Dermato-Venereologica. ISSN 0001-5555 Erythrokeratodermia variabilis (EKV, MIM: 133200) is a rare autosomal dominant disorder characterized by the association of: (i) localized or generalized hyperkeratosis, and (ii) transient erythematous areas (1). Hyperkeratotic areas show well-demarcated, geographically outlined,...

An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.

Erythrokeratodermia variabilis: successful palliative treatment with acitretin.

Sir, Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis which is characterized by the coexistence of hyperkeratotic plaques and transient erythematous patches. Irregular, variably shaped erythematous macular patches may enlarge or regress over time. Concurrently, there are persistent, well-demarcated, geographic, hyperkeratotic plaques which are distributed on the ...

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Erythrokeratodermia variabilis (EKV) is a skin disorder characterized by variable (transient) erythemas and fixed keratosis. The disorder maps to chromosome 1p34-35, a location that contains the GJB3 gene encoding the gap junction protein connexin 31. Until now, only heterozygote mutations in the form of dominant inheritance have been described in this gene associated with EKV. We report here a...