RESUMEN
Introduction: Phlegmasia cerulea dolens (PCD) is an uncommon, potentially life-threatening complication of acute deep venous thromboses that requires a timely diagnosis. The name of the condition, the visual diagnostic criteria, and the preponderance of cases in the literature referencing findings exclusively in patients with lighter skin complexions means that PCD may not be on the differential diagnosis for the patient with more melanated skin who is experiencing this time-sensitive vascular emergency. Case Report: We describe one case of PCD in a patient with darker skin complexion and the importance of identifying clinical findings, regardless of skin color, given the paucity of reference images for PCD in darker complected patients. Our literature review yielded 60 case reports for PCD. Only two papers included images referencing patients of color. Conclusion: Accurate diagnosis requires recognition of diagnostic findings, which may vary significantly between phenotypically distinct populations. Many pathognomonic physical exam findings rely on descriptors based on presentation in phenotypically white patients.
RESUMEN
The expansion of a hexanucleotide (GGGGCC) repeat in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both the function of C9ORF72 and the mechanism by which the repeat expansion drives neuropathology are unknown. To examine whether C9ORF72 haploinsufficiency induces neurological disease, we created a C9orf72-deficient mouse line. Null mice developed a robust immune phenotype characterized by myeloid expansion, T cell activation, and increased plasma cells. Mice also presented with elevated autoantibodies and evidence of immune-mediated glomerulonephropathy. Collectively, our data suggest that C9orf72 regulates immune homeostasis and an autoimmune response reminiscent of systemic lupus erythematosus (SLE) occurs in its absence. We further imply that haploinsufficiency is unlikely to be the causative factor in C9ALS/FTD pathology.
