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

Abstract 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, respec...

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Autores principales:	M. Shah, S. Baral, R. C. Adhikari
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	Dermatology RL1-803
Acceso en línea:	https://doaj.org/article/038618164b0a4668925eedd0f3d14a0f
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spelling	oai:doaj.org-article:038618164b0a4668925eedd0f3d14a0f2021-12-02T11:13:08ZErythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation2690-442X10.1002/ski2.63https://doaj.org/article/038618164b0a4668925eedd0f3d14a0f2021-12-01T00:00:00Zhttps://doi.org/10.1002/ski2.63https://doaj.org/toc/2690-442XAbstract 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.M. ShahS. BaralR. C. AdhikariWileyarticleDermatologyRL1-803ENSkin Health and Disease, Vol 1, Iss 4, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Dermatology RL1-803
spellingShingle	Dermatology RL1-803 M. Shah S. Baral R. C. Adhikari Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation
description	Abstract 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.
format	article
author	M. Shah S. Baral R. C. Adhikari
author_facet	M. Shah S. Baral R. C. Adhikari
author_sort	M. Shah
title	Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation
title_short	Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation
title_full	Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation
title_fullStr	Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation
title_full_unstemmed	Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation
title_sort	erythrokeratoderma variabilis (ekv) – first nepalese case documenting gjb3 mutation
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/038618164b0a4668925eedd0f3d14a0f
work_keys_str_mv	AT mshah erythrokeratodermavariabilisekvfirstnepalesecasedocumentinggjb3mutation AT sbaral erythrokeratodermavariabilisekvfirstnepalesecasedocumentinggjb3mutation AT rcadhikari erythrokeratodermavariabilisekvfirstnepalesecasedocumentinggjb3mutation
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Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation

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