Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy Agnes Schwieger-Briel, Ignacia Fuentes, Daniele Castiglia,

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Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy Agnes Schwieger-Briel, Ignacia Fuentes, Daniele Castiglia, Antonio Barbato, Matthias Greutmann, Juna Leppert, Sabine Duchatelet, Alain Hovnanian, Sofia Burattini, M. Joao Yubero, Rodrigo Ibañez-Arenas, Boris Rebolledo-Jaramillo, Christoph Gräni, Hagen Ott, Martin Theiler, Lisa Weibel, Amy S. Paller, Giovanna Zambruno, Judith Fischer, Francis Palisson, Cristina Has Journal of Investigative Dermatology Volume 139, Issue 1, Pages 244-249 (January 2019) DOI: 10.1016/j.jid.2018.07.022 Copyright © 2018 The Authors Terms and Conditions

Figure 1 Cutaneous and cardiac features of EBS-KLHL24. (a) Congenital skin defects and blistering; (b) characteristic stellate scarring; (c–e) macular or whorled hypopigmentation and hyperpigmentation in children; and (f–h) mild skin fragility, anetoderma, diffuse alopecia, and nail dystrophy in adults. (i, j) Echocardiograph of patient 1: four-chamber view at (i) end-diastole and (j) end-systole with severe dilatation of LV and LA and severely impaired LV ejection fraction. (k, l) Magnetic resonance imaging (CMR): (k) cine sequence (end-diastole) in the short axis view at basal level and (l) wall thinning of inferoseptal and inferior LV wall segments (white arrows). Extensive late-gadolinium enhancement in all segments: transmural fibrosis, corresponding to the thinned inferior and inferolateral wall of the LV (small arrowheads), non-transmural mid-wall fibrosis visible in the septum (large arrowheads), and to a lesser extent, the lateral, anterior, and septal segments of the LV and diffuse fibrosis of the RV. LA, left atrium; RA, right atrium; LV, left ventricle; RV, right ventricle. Journal of Investigative Dermatology 2019 139, 244-249DOI: (10.1016/j.jid.2018.07.022) Copyright © 2018 The Authors Terms and Conditions