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

Area of Science:

• Genetics
• Dermatology
• Molecular Biology

Background:

• Erythrokeratoderma Variabilis (EKV) is a rare genodermatosis characterized by variable erythematous and hyperkeratotic skin lesions.
• EKV is typically inherited in an autosomal dominant (AD) pattern, with mutations in the GJB3 and GJB4 genes identified as causative.
• Connexins 31 and 30.3 are encoded by the GJB3 and GJB4 genes, respectively.

Purpose of the Study:

• To report the first case of Erythrokeratoderma Variabilis in a Nepalese patient.
• To identify the genetic mutation underlying EKV in this patient.
• To contribute to the understanding of GJB3-associated genodermatoses.

Main Methods:

• Clinical examination and histological analysis of skin lesions.
• Genetic analysis to detect mutations in candidate genes.
• DNA sequencing to identify specific nucleotide changes.

Main Results:

• A 7-year-old girl presented with characteristic dusky red and brown skin lesions on her face, buttocks, arms, and legs.
• Histological findings confirmed the diagnosis of EKV.
• Genetic analysis revealed a G>C transition at position 125 in the GJB3 gene, resulting in an arginine to proline substitution at residue 42 (R42P).

Conclusions:

• This report describes the first documented case of EKV in a Nepalese patient.
• The identified GJB3 R42P mutation is causative for EKV in this individual.
• This finding expands the known spectrum of GJB3 mutations associated with genodermatoses.