dc.contributor.author | Torrelo, Antonio J. | |
dc.contributor.author | Colmenero, Isabel | |
dc.contributor.author | Requena Caballero, Luis | |
dc.contributor.author | Paller, Amy S. | |
dc.contributor.author | Ramot, Yuval | |
dc.contributor.author | Lee, Chyi-Chia Richard | |
dc.contributor.author | Vera, Ángel | |
dc.contributor.author | Zlotogorski, Abraham | |
dc.contributor.author | Goldbach-Mansky, Raphaela | |
dc.contributor.author | Kutzner, Heinz | |
dc.contributor.other | Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD) | es_ES |
dc.date.accessioned | 2017-04-21T14:18:34Z | |
dc.date.available | 2017-04-21T14:18:34Z | |
dc.date.issued | 2015-07 | |
dc.identifier.citation | American Journal of Dermatopathology 37.7 (2015): 517-522 | en |
dc.identifier.issn | 0193-1091 (print) | es_ES |
dc.identifier.issn | 1533-0311 (online) | es_ES |
dc.identifier.uri | http://hdl.handle.net/10486/677995 | |
dc.description.abstract | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly characterized autoinflammatory disorder, caused by mutations in PSMB8. It is characterized by early-onset fevers, accompanied by a widespread, violaceous and often annular, cutaneous eruption. While the exact pathogenesis of this syndrome is still obscure, it is postulated that the inflammatory disease manifestations stem from excess secretion of interferons. Based on preliminary blood cytokine and gene expression studies, the signature seems to come mostly from type I interferons, which are proposed to lead to the recruitment of immature myeloid cells into the dermis and subcutis. In this study, we systematically analyzed skin biopsies from 6 CANDLE syndrome patients by routine histopathology and immunohistochemistry methods. Skin lesions showed the presence of extensive mixed dermal and subcutaneous inflammatory infiltrate, composed of mononuclear cells, atypical myeloid cells, neutrophils, eosinophils and some mature lymphocytes. Positive LEDER and myeloperoxidase staining supported the presence of myeloid cells. Positive CD68/PMG1 and CD163 staining confirmed the existence of histiocytes and monocytic macrophages in the inflammatory infiltrate. CD123 staining was positive, demonstrating the presence of plasmacytoid dendritic cells. Uncovering the unique histopathologic and immunohistochemical features of CANDLE syndrome provides tools for rapid and specific diagnosis of this disorder as well as further insight into the pathogenesis of this severe, life-threatening condition | en_US |
dc.description.sponsorship | This work was supported in part by the NIAMS Intramural Research Program (IRP) at the National Institutes of Health (NIH); The Authority for Research and Development, Hebrew University of Jerusalem (to A.Z.), and the Young clinician’s grant, Hadassah – Hebrew University Medical Center (to Y.R.) | en_US |
dc.format.extent | 13 pag. | es_ES |
dc.format.mimetype | application/pdf | es_ES |
dc.language.iso | eng | en |
dc.publisher | International Society of Dermatopathology (ISDP) | en_US |
dc.relation.ispartof | American Journal of Dermatopathology | en_US |
dc.subject.other | Immunohistochemistry | en_US |
dc.subject.other | CANDLE syndrome | en_US |
dc.subject.other | PSMB8 | en_US |
dc.subject.other | Histopathology | en_US |
dc.subject.other | Autoinflammation | en_US |
dc.subject.other | Interferons | en_US |
dc.title | The histological and immunohistochemical features of the skin lesions in CANDLE syndrome | en_US |
dc.type | article | en |
dc.subject.eciencia | Medicina | es_ES |
dc.relation.publisherversion | http://dx.doi.org/10.1097/DAD.0000000000000340 | es_ES |
dc.identifier.doi | 10.1097/DAD.0000000000000340 | es_ES |
dc.identifier.publicationfirstpage | 517 | es_ES |
dc.identifier.publicationissue | 7 | es_ES |
dc.identifier.publicationlastpage | 522 | es_ES |
dc.identifier.publicationvolume | 37 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | en |
dc.rights.accessRights | openAccess | en |
dc.facultadUAM | Facultad de Medicina | |