Browsing by Author "Castiglia, D."
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Item Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy(2019) Schwieger-Briel, A.; Fuentes, Ignacia; Castiglia, D.; Barbato, A.; Greutmann, M.; Leppert, J.; Duchatelet, S.; Hovnanian, A.; Burattini, S.; Yubero, María; Ibañez-Arenas, Rodrigo; Rebolledo-Jaramillo, Boris; Gräni, C.; Ott, H.; Theiler, M.; Weibel, L.; Paller, A.S.; Zambruno, G.; Fischer, J.; Palisson, Francis; Has, C.Inherited 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).