Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation

Erythrokeratoderma Variabilis (EKV) is a rare genodermatosis, characterized by variable erythematous and hyperkeratotic skin lesions. It is most often transmitted in autosomal dominant manner (AD). Casual mutations were found in the GJB3 and GJB4 genes encoding connexins 31 and 30.3, respectively. We report a 7-year-old girl with multiple dusky red and brown skin lesions on face, buttock, both arms and legs. This diagnosis was made on the basis of clinical and histological findings and further genetic analysis detected a G > C transition at position 125 of the coding sequence, which replaces arginine with a proline at residue 42 of the protein (R42P). Here, we report a first case of Nepalese patient with EKV resulting from the GJB3 mutation.