Atteinte osseuse axiale de la sarcoïdose.

INTRODUCTION: Sarcoidosis is a multi-systemic disease characterized by non-caseating granulomas. Bone involvement initially considered as rare and described as a peripheral osteitis of the hands and feet, has recently been reported on the axial skeleton. CASE REPORTS: We report 4 clinical observations of sarcoidosis (3 women, 1 man) with axial bone involvement located to the spine (n = 4), pelvic bone (n = 2), scapular bone (n = 2), sternum (n = 1), mandible (n = 1). Sarcoidosis was already diagnosed in 3 cases. Bone pain was the main symptom, related in 3 cases. Magnetic resonance imaging appeared to be the best imaging test Histological bone analysis revealed typical granulomatous lesions (n = 2). Treatment included corticosteroids (n = 4), hydroxychloroquine (n = 2), and methotrexate (n = 2), with a good efficacy on bone pain in symptomatic patients. CONCLUSION: These 4 cases, as well as recent literature, illustrate bone involvement of sarcoidosis on the axial skeleton. It is symptomatic in around 50% of cases but may be a source of significant disability. Differential diagnosis with neoplasm may require bone histological analysis. This condition appears to be responsive to usual treatments for sarcoidosis.

Efficacy of intravenous iron therapy in non-anaemic iron-deficient patients with fatigue.

Iron deficiency, without anaemia, is common in the general population and induces various symptoms. Its management consists of oral and intravenous supplementation for cases of inefficacy of or intolerance to oral iron. We assessed the efficacy of intravenous iron therapy in non-anaemic iron-deficient patients with fatigue. We prospectively evaluated the level of fatigue, using the Fatigue Severity Scale (FSS), in patients suffering from iron deficiency without anaemia, treated by intravenous iron at the moment of the perfusion (W0), after 4 weeks (W4), and 12 weeks (W12). Of 25 patients, at W0, the mean FFS was 49.3+/-13.7. There was a significant improvement in FSS at W4 (44+/-15; p = 0.01) and a sustained response at W12 with an FFS of 35.8+/-17.1 (p < 0,0001). There was no correlation between FSS and serum ferritin level at W12 (p=0.54) or between serum ferritin at W12 and difference between FSS at W0 and W12 (p=0.58). There were six mild adverse events (24%): asthenia (8%), nausea (8%), headache (4%), local pain (4%); and no serious adverse events. Our results suggest the rapid efficacy of intravenous iron in improving fatigue in iron deficiency without anaemia with a good profile of tolerance.

[Gaucher Disease type 1 mimicking immune thrombocytopenia: Role of hyperferritinemia and hypergammaglobulinemia in the initial evaluation of an isolated thrombopenia]. / Maladie de Gaucher de type 1 simulant une thrombopénie immunologique : intérêt de l'hyperferritinémie et de l'hypergammaglobulinémie dans le bilan d'une thrombopénie isolée.

INTRODUCTION: Gaucher disease type 1 is a rare genetic disease. It can cause thrombocytopenia. Current guidelines do not support bone marrow examination in front of isolated thrombocytopenia if no evidence suggests malignant hemopathy. This strategy aiming at sparing unnecessary investigations makes such rare diseases more difficult to diagnose. CASE REPORT: A 31-year-old woman was diagnosed with immune thrombocytopenia according to current guidelines. She presented later with mild splenomegaly. Bone marrow aspirate smears showed Gaucher cells. Gaucher disease was then confirmed. Looking backward, initial biological clues (hyperferritinemia, hypergammaglobulinemia) should have enabled to consider the diagnosis. CONCLUSION: Gaucher disease type 1 can be responsible for apparently isolated thrombocytopenia. The disease must be looked for if the thrombocytopenia is associated with unexplained hypergammaglobulinemia or hyperferritinemia. Diagnosing immune thrombocytopenia without bone marrow sample requires to systematically pay attention to any clinical or biological abnormality, not to ignore rare differential diagnoses.

[Chronic lymphoid leukemia and renal complication: Report on 10 cases from Marseille over 16 years]. / Néphropathies au cours de la leucémie lymphoïde chronique : à propos d'une étude monocentrique de 10 cas.

INTRODUCTION: Chronic lymphoid leukemia (CLL) is a hematological malignant disease, associated with a clonal B cell proliferation. The incidence is 4400 new cases per year in France. The prevalence increases with age with a median age at diagnostic of 65 years. Renal involvement is rare and estimated at 1.2% of patients with CLL. Renal pathological diagnoses associated with CLL are variable and are not always related to the hematological disease. We report here on cases of patients with CLL who underwent a renal biopsy over the past 16 years in Marseille. METHODS: All cases of renal biopsies performed in patients with CLL between2000 and 2016 in Marseille were included. Pathological analysis was performed by the same experimented pathologist. Data were collected at the time of biopsy and after treatment. RESULTS: Ten patients were included in this study. The reason for renal biopsy was acute kidney injury or the onset of nephrotic syndrome. We report on 4 cases of membranous nephropathy, 1 minimal change disease, 1 cryglobulinemia-related membrano-proliferative glomerulonephritis, 1 light chain amyloidosis, 1 fibrillary glomerulonephritis, 1 interstitial monoclonal infiltration and one case of non-specific tubular lesions. Only one patient was treated before the biopsy, 7 patients received a specific hematological treatment of CLL because of its renal involvement. Renal and hematological responses were variable. CONCLUSION: Renal involvement of CLL is rare and is not mentioned in the Binet classification. Yet, it can be severe, with acute kidney injury or nephrotic syndrome, and can lead to the initiation of a specific treatment. The most frequent presentation this series was secondary MN, which differs from previous series.

Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature.

BACKGROUND: Peripheral nerve system (PNS) involvement is common in Fabry's disease (FD), predominantly affecting the small nerve fibers that are difficult to investigate with conventional electrophysiological methods. PATIENTS AND METHODS: Eighteen patients followed for Fabry's disease underwent a prospective series of electroneurophysiological explorations, including a study of the cardiac parasympathetic autonomic nervous system (ANS) and electrochemical skin conductance (ESC) tests. Data were compared with those obtained in 18 matched healthy controls. RESULTS: All patients had at least one clinical sign suggestive of neuropathy: 16 reported an acrosyndrome and 12 had dyshidrosis. Cold hypoesthesia was found in 15 patients and heat hypoesthesia in 13. Electroneurophysiological investigations and study of the cardiac parasympathetic ANS were normal in all patients. The ESC was significantly lower in FD patients compared with controls. CONCLUSION: PNS involvement is common in FD and should be suspected in patients exhibiting an acrosyndrome, dyshidrosis and/or cold hypoesthesia. Conventional electrophysiological investigations are normal. New techniques, such as ESC, provide early diagnosis of small fiber involvement that currently requires more sophisticated tests difficult to apply in routine practice.

Sarcoidosis preceding chronic myelomonocytic leukemia. Report of two cases.

We report 2 patients who had sarcoidosis with skin involvement associated with bilateral anterior uveitis. During the follow-up, they developed chronic myelomonocytic leukemia. This association is of particular interest as sarcoidosis and chronic myelomonocytic leukemia may be considered as disorders of a common monocyte-macrophage cell lineage.

[Retrospective study of 55 patients with circulating blood T gama/delta lymphocytosis]. / Etude rétrospective de 55 patients présentant une lymphocytose T gamma/delta dans le sang circulant.

PURPOSE: Gamma/delta T lymphocytes constitute a singular population due to their particular antigenic recognition and their localization inside the epithelium. Their functions are complementary to those of the alpha/beta T-cells and they are involved in the defense and regulation of the immune system. Their role in human diseases is not very well understood and the aim of our study was to analyze a population of patients with a peripheral gamma/delta T-cell lymphocytosis. METHODS: The study included 55 patients, recruited from 1997 to 2000, with a peripheral gamma/delta T lymphocytosis (defined by a proportion of gamma/delta T-cells of over 10% of total peripheral T lymphocytes). Analysis of the lymphocyte population was obtained by cytometry after peripheral blood sampling. RESULTS: Three main groups of diseases were observed: infectious diseases (viral infections and tuberculosis), inflammatory diseases (sarcoidosis and autoimmune diseases) and blood diseases (monoclonal gammopathies and hemopathies). Persistence of gamma/delta T lymphocytosis was dependent on the underlying disease (transitional when associated with an infectious disease and lasting when associated with sarcoidosis). The rest of the immunophenotyping analysis was usually normal. CONCLUSION: Our results confirm the data published in the literature concerning the role of the gamma/delta T lymphocytes in infectious, inflammatory and autoimmune diseases and neoplasias. These data are in agreement with the cytotoxic and regular functions of these lymphocytes.

Prelymphomatous presentation of T-cell non-Hodgkin lymphomas. A clinical and histopathological study of 11 cases.

We report a retrospective study of 11 patients suffering from T-cell non-Hodgkin lymphomas preceded by immunological disorders including two chronic granulomatous diseases, one midline granuloma, four autoimmune hematologic disorders, one hypereosinophilic syndrome, two chronic lymphadenopathies, and one chronic angioedema. In the follow-up of these 11 patients, T-cell non-Hodgkin lymphomas were diagnosed. Even if we cannot exclude a fortuitous association, we feel that these conditions could constitute a 'prelymphomatous' stage.

Cannabis arteritis revisited--ten new case reports.

The purpose of this paper was to revisit the old concept of cannabis arteritis first described in the 1960s and report 10 new cases. Ten male patients, with a median age of 23.7 years developed subacute distal ischemia of lower or upper limbs, leading to necrosis in the toes and/or fingers and sometimes to distal limb gangrene. Two of the patients also presented with venous thrombosis and three patients were suffering from a recent Raynaud's phenomenon. Biological test results did not show evidence of the classical vascular risk factors for thrombosis. Arteriographic evaluation in all cases revealed distal abnormalities in the arteries of feet, legs, forearms, and hands resembling those of Buerger's disease. A collateral circulation sometimes with opacification of the vasa nervorum was noted. In some cases, arterial proximal atherosclerotic lesions and venous thrombosis were observed. All patients were moderate tobacco smokers and regular cannabis users. Despite treatment with ilomedine and heparin in all cases, five amputations were necessary in four patients. The vasoconstrictor effect of cannabis on the vascular system has been known for a long time. It has been shown that delta-8- and delta-9-tetrahydrocanabinols may induce peripheral vasoconstrictor activity. Cannabis arteritis resembles Buerger's disease, but patients were moderate tobacco smokers and regular cannabis users. These cases show that prolonged use of cannabis could be an additive risk factor for juvenile and young adult arteritis. Cannabis arteritis is a forgotten and severe occlusive vascular disease occurring in young adults. Search for cannabis use may be an important tool for a better knowledge of arteritis in young smokers.

Lymphomatoid papulosis associated with both severe hypereosinophilic syndrome and CD30 positive large T-cell lymphoma.

BACKGROUND: Previous reports have found an association between lymphomatoid papulosis and hypereosinophilic syndrome, as well as lymphomatoid papulosis and lymphoma. In the current study the authors report what to their knowledge is the first reported case of these three diseases occurring simultaneously in the same patient. METHODS: The authors followed the clinical course of a 64-year-old man with lymphomatoid papulosis associated with severe hypereosinophilic syndrome complicated by involvement of the lungs and heart. RESULTS: After 6 years of follow-up, the patient developped a large T-cell, CD30 positive lymphoma. The bone marrow biopsy was typical of hypereosinophilic syndrome associated with fibrosis, with focal lymphomatous infiltrates comprised of large cells resembling the type A cells of lymphomatoid papulosis. Complete remission of the lymphoma was obtained with chemotherapy. CONCLUSIONS: This exceptional case report suggests a link between the three diseases. Lymphomatoid papulosis belongs to the spectrum of CD30 positive lymphoproliferative disorders and CD30 positive lymphocytes of lymphomatoid papulosis are known to have a Th2 profile with possible secretion of eosinopoietic cytokines.

[Heat shock proteins or "stress proteins"]. / Les heat shock proteins ou les "protéines de stress".

INTRODUCTION: Heat shock proteins (HSP) are molecular chaperones which facilitate the biosynthesis and maturation of proteins within cells (protein folding). They promote assembly and disassembly of polypeptides and play a major role in cellular function, not only during the stress response but also at basal state. CURRENT KNOWLEDGE AND KEY POINTS: As HSP are immunogenic molecules and can be expressed on cellular membranes, their role in auto-immune and inflammatory diseases, particularly in systemic lupus erythematosus, Behçet's disease and rheumatoid arthritis, has been studied. Cellular immune response of T cells and humoral response with antibodies production against HSP occurring in the course of those diseases have been observed. FUTURE PROSPECTS AND PROJECTS: Anti-HSP immune response might provide better understanding of the pathogenic mechanisms involved in those diseases. At present it is not known whether HSP can trigger them. Indeed, anti-HSP immunity could be induced by the immunological process or be part of a normal immunoregulatory response.