Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy
| dc.contributor.author | Schwieger-Briel, A. | |
| dc.contributor.author | Fuentes, Ignacia | |
| dc.contributor.author | Castiglia, D. | |
| dc.contributor.author | Barbato, A. | |
| dc.contributor.author | Greutmann, M. | |
| dc.contributor.author | Leppert, J. | |
| dc.contributor.author | Duchatelet, S. | |
| dc.contributor.author | Hovnanian, A. | |
| dc.contributor.author | Burattini, S. | |
| dc.contributor.author | Yubero, María | |
| dc.contributor.author | Ibañez-Arenas, Rodrigo | |
| dc.contributor.author | Rebolledo-Jaramillo, Boris | |
| dc.contributor.author | Gräni, C. | |
| dc.contributor.author | Ott, H. | |
| dc.contributor.author | Theiler, M. | |
| dc.contributor.author | Weibel, L. | |
| dc.contributor.author | Paller, A.S. | |
| dc.contributor.author | Zambruno, G. | |
| dc.contributor.author | Fischer, J. | |
| dc.contributor.author | Palisson, Francis | |
| dc.contributor.author | Has, C. | |
| dc.date.accessioned | 2020-04-02T13:07:33Z | |
| dc.date.available | 2020-04-02T13:07:33Z | |
| dc.date.issued | 2019 | |
| dc.description.abstract | 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). | |
| dc.format.extent | 14 p. | |
| dc.identifier.citation | Journal of Investigative Dermatology. 2019 Jan;139(1):244-249 | |
| dc.identifier.uri | http://hdl.handle.net/11447/3201 | |
| dc.identifier.uri | https://doi.org/10.1016/j.jid.2018.07.022 | |
| dc.language.iso | en | |
| dc.subject | Epidermolysis bullosa simplex | |
| dc.subject | KLHL24 | |
| dc.subject | Dilated cardiomyopathy | |
| dc.subject | NT-Pro-BNP | |
| dc.title | Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy | |
| dc.title.alternative | Cardiomyopathy in Epidermolysis bullosa KLHL24 | |
| dc.type | Article |