Publications by authors named "Rocio Cabrera Perez"
Article Synopsis
- Lipoid proteinosis (LP) is a rare genetic skin disorder caused by ECM1 gene mutations, leading to abnormal material accumulation in skin and organs.
- The case report focuses on a 48-year-old man with LP who improved significantly after treatment with oral acitretin, while a systematic review was conducted to gather and evaluate related studies on LP management.
- The review included 25 studies and analyzed data from 44 patients, suggesting that low-dose acitretin may be a promising treatment option with fewer side effects, but highlights the need for further research to develop better treatment guidelines.
Background: Increasing evidence links genetic defects affecting actin-regulatory proteins to diseases with severe autoimmunity and autoinflammation, yet the underlying molecular mechanisms are poorly understood. Dedicator of cytokinesis 11 (DOCK11) activates the small Rho guanosine triphosphatase (GTPase) cell division cycle 42 (CDC42), a central regulator of actin cytoskeleton dynamics. The role of DOCK11 in human immune-cell function and disease remains unknown.
View Article and Find Full Text PDFPurpose: To describe the ophthalmic findings and diagnosis of a case of intravascular large B-cell lymphoma.
Methods: Clinical case observational report.
Clinical Case: A Spanish 51-year-old man referred to our hospital with a diagnosis of panuveitis.
Background: Cutaneous carcinosarcoma is a rare biphasic tumor comprising malignant epithelial and heterologous mesenchymal elements. Data on the clinical and histopathologic characteristics of this tumor are scarce. The objective of this study was to describe the clinicopathologic and immunohistochemical features of cutaneous carcinosarcoma.
View Article and Find Full Text PDFCurrently, the diagnosis of kidney allograft rejection relies on individual histological assessments made by expert pathologists according to the Banff classification. In this study, we applied new Computer-Assisted System Technology (newCAST™) by Visiopharm® with the aim of identifying and quantifying the immune cells in inflammatory infiltrates. We searched for distinctive cellular profiles that could be assigned to each rejection category of the Banff schema: antibody-mediated rejection (active and chronic active), borderline, T cell-mediated rejection (TCMR), and mixed rejection.
View Article and Find Full Text PDFArticle Synopsis
- Primary cutaneous B-cell lymphoma (CBCL) is a rare type of skin cancer, making up 25% of primary cutaneous lymphomas, and the study aimed to analyze its characteristics in a specific region from 2004 to 2015.
- The research reviewed 22 patients, predominantly male (65%), with the follicle center lymphoma subtype being the most frequent, while only a few cases showed advanced disease.
- The findings align with previous studies in terms of incidence, demographics, and clinical features, contributing valuable data to the understanding of CBCL in the Spanish population.
C3 glomerulopathies (C3G) are a group of severe renal diseases with distinct patterns of glomerular inflammation and C3 deposition caused by complement dysregulation. Here we report the identification of a familial C3G-associated genomic mutation in the gene complement factor H–related 1 (CFHR1), which encodes FHR1. The mutation resulted in the duplication of the N-terminal short consensus repeats (SCRs) that are conserved in FHR2 and FHR5.
View Article and Find Full Text PDFPenile cancer is an uncommon malignancy in the Developed World. They are dispersed mainly via the lymphatic pathway. We present a single case of massive intracardiac metastases secondary to epidermoid carcinoma of the penis.
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