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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL 24
Author(s) -
Yenamandra V.K.,
Akker P.C.,
Lemmink H.H.,
Jan S.Z.,
Diercks G.F.H.,
Vermeer M.,
Berg M.P.,
Meer P.,
Pasmooij A.M.G.,
Sinke R.J.,
Jonkman M.F.,
Bolling M.C.
Publication year - 2018
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.16797
Subject(s) - epidermolysis bullosa simplex , epidermolysis bullosa , medicine , cardiomyopathy , dermatology , heart failure
Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in the pathogenesis of epidermolysis bullosa simplex (EBS). So far, 26 patients from different ethnicities have been reported and all of them harboured a heterozygous KLHL24 start-codon mutation, with c.1A>G;p.Met1? being the most prevalent.1-3 Through this report, we aimed to expand the phenotypic spectrum by incorporating additional findings, in particular, dilated cardiomyopathy, seen in a Dutch family. This article is protected by copyright. All rights reserved.