Schwieger-Briel, A.Fuentes, IgnaciaCastiglia, D.Barbato, A.Greutmann, M.Leppert, J.Duchatelet, S.Hovnanian, A.Burattini, S.Yubero, MaríaIbañez-Arenas, RodrigoRebolledo-Jaramillo, BorisGräni, C.Ott, H.Theiler, M.Weibel, L.Paller, A.S.Zambruno, G.Fischer, J.Palisson, FrancisHas, C.2020-04-022020-04-022019Journal of Investigative Dermatology. 2019 Jan;139(1):244-249http://hdl.handle.net/11447/3201https://doi.org/10.1016/j.jid.2018.07.022Inherited epidermolysis bullosa (EB) comprises rare heterogeneous disorders characterized by cutaneous and mucosal fragility. Most of the 20 proteins affected have structural functions. Recently, a previously undescribed type of EB simplex (EBS), caused by gain-of-function mutations in KLHL24, encoding KLHL24 has been identified (He et al., 2016; Lin et al., 2016). This protein seems to be involved in protein ubiquitination. Patients carrying monoallelic mutations in the translation initiation codon of KLHL24 have a characteristic clinical phenotype, showing skin defects and blistering at birth and unusual stellate scarring, skin fragility, and whorled or macular hyperpigmentation or hypopigmentation in childhood (Figure 1a–e).14 p.enEpidermolysis bullosa simplexKLHL24Dilated cardiomyopathyNT-Pro-BNPArticle