Syndrome des antisynthétases : diagnostic et traitements

The anti-synthetases syndrome is a rare disease with a specific constellation of clinical symptoms present in a subset of patients with inflammatory myopathy. Besides constitutional symptoms and myositis, it is associated with mechanic's hands, Raynaud phenomenon, and non-erosive arthritis. This syndrome is characterized by the presence of one of eight auto-antibodies to aminoacyl-transfer ribonucleic acid synthetase enzymes in the serum. Interstitial lung disease is more frequent in this subpopulation of inflammatory myopathy and worsens the patient's prognosis

La maladie d’Erdheim Chester : un diagnostic différentiel de fibrose rétropéritonéale

Erdheim-Chester disease is a rare multisystemic non-Langerhans histiocytosis with about 500 reported cases. Typical features include retroperitoneal and perirenal fibrosis (hairy kidney), periaortitis with a coated aorta, osteosclerosis of the lower limbs, and sometimes exophthalmia or diabetes insipidus. Histology is the cornerstone for diagnosis showing an infiltrate with foamy histiocytes and occasional multinucleated giant cells (Touton cells). There is no standard treatment regimen, current options include corticosteroids, interferon alpha, systemic chemotherapy, and radiation therapy ; however, a better understanding of the pathophysiological mechanisms has allowed the emergence of novel targeted treatments such as vemurafenib, imatinib, and anakinra