Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.

Hypophosphatasia is a rare genetic disease characterized by abnormal alkaline phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is well known in pediatrics with typical presentations in children, but mild forms can also be present in adults and are difficult to detect. We present the case of a 50-year-old woman referred for pain management, with a previous diagnosis of fibromyalgia.

[Clinically amyopathic dermatomyositis : a rare entity associated with acute and severe interstitial lung disease].

Dermatomyositis is a rare disease of unknown etiology characterized by a severe inflammatory myopathy associated with a cutaneous syndrome. Dermatomyositis is associated with multisystemic disorders mostly represented by cardiac, pulmonary and articular involvements, which are particularly associated with a bad prognosis. We report a case of a 50-year-old patient suffering from dermatomyositis associated with an interstitial lung disease with a particularly fast and pejorative clinical evolution.

Clinical experience in anti-synthetase syndrome: a monocentric retrospective analytical study.

Anti-synthetase syndrome (ASS) is a rare autoimmune disorder combining autoantibodies and specific clinical manifestations. One of the particularities of ASS is the pleiomorphic radiological presentation seen at the initial work-up. Evaluating treatment response can also be challenging and requires specific clinical, functional, biological and radiological monitoring.

Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis.

Objective: To refine the predictive significance of muscle granuloma in patients with myositis.

Methods: A group of 23 patients with myositis and granuloma on muscle biopsy (granuloma-myositis) from 8 French and Belgian centers was analyzed and compared with (1) a group of 23 patients with myositis without identified granuloma (control-myositis) randomly sampled in each center and (2) a group of 20 patients with sporadic inclusion body myositis (sIBM) without identified granuloma (control-sIBM).

Results: All but 2 patients with granuloma-myositis had extramuscular involvement, including signs common in sarcoidosis that were systematically absent in the control-myositis and the control-sIBM groups.

[Lupus nephropathy: Insight in new treatments].

Systemic lupus erythematosus is a chronic autoimmune disease. Both acquired and innate immune systems are involved in the development of this systemic disease. Lupus nephritis usually is the most serious manifestation of systemic lupus erythematosus, with significant morbidity and mortality.