Atypical porphyria cutanea tarda in a patient with chronic myelogenous leukemia.
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Biomedical subjects
Publications and source records attributed to L Swiader.
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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.
Polysplenia syndrome includes a group of congenital abnormalities involving the spleen, gastrointestinal tract, liver, and cardiovascular system. A case of severe lower limbs lymphedema occurring in a young woman with polysplenia, azygous continuation of the inferior vena cava, short pancreas, and preduodenal portal vein is reported. Lower limb lymphedema could represent a new clinical manifestation associated with polysplenia syndrome. Lymphedema could be the result of a primary anomaly of the lymphatic system or be induced by high pressure in the venous system or by compression of the lymphatic circulation by the hypertrophic azygous vessels in the posterior mediastinum.
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.
BACKGROUND: Primary periodic palsy is a group of muscular diseases transmitted by autosomal dominant inheritance. The characteristic features are flaccid muscular deficiency, abolition of reflexes, and dyskalemia. CASE REPORT: A 36-year-old woman presented a 5-year history of acute episodes of myalgia, muscle contracture, and muscle paralysis involving first the hand, then all four limbs and the face, sparing the respiratory muscles. The symptoms totally regressed spontaneously within one hour or in a shorter time if the patient ingested sugar. Demonstration of hyperkalemia during an acute episode led to the diagnosis of transfer hyperkalemia typical of Gamstorp's disease. Several members of the family presented identical symptoms. DISCUSSION: Despite progress in our understanding of this disease, diagnosis is often made late. The diagnostic strategy is however quite simple: serum potassium during an acute episode and provocation test with fasting and rest.
PURPOSE: Antiphosphatidylethanolamine antibodies (aPE) are zwitterionic antiphospholipid antibodies that have been recently described in antiphospholipid syndrome. IgM is the most frequently observed isotype. We assessed the potential relationship between serum IgM levels and their presence. METHODS: Seventy-two patients (66 females, 6 males) positive for aPE of the IgM isotype were followed up for 2 years. They suffered from either an autoimmune disease or had clinical signs suggesting the existence of antiphospholipid syndrome or other immune disorders. Seventy-two control patients (58 females, 14 males) of similar age, with other immune disorders were also included in the study. For each of them, the IgM level was obtained and hyper-immunoglobulinemia M (hyper-IgM) was defined as a value upper than 2.5 g/L. Search for aPE of the IgM isotype was made using an in-house Elisa test. RESULTS: Half of the aPE-positive patients had serum hyper-IgM, whereas none of the aPE-negative patients had hyper-IgM. All IgMs were polyclonal. There was a positive correlation (r = 0.57, P = 0.001) between the level of IgM and the optical densities obtained by Elisa. The presence of a hyper-IgM did not modify the clinical manifestations (arterial and venous thromboses, recurrent fetal losses), nor the positivity of lupus anticoagulant, anticardiolipin and anti-beta-2-glycoprotein 1 antibodies. CONCLUSION: The positive correlation between the IgM level and aPE level is of value, as it suggests a possible relationship between lymphocytic activation and auto-antibodies production, which does not concern only aPE. Further studies regarding the antigenic specificity of IgM will probably provide further insights on IgM and phospholipid interactions.
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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.
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Visceral leishmaniasis or Kala-azar is an endemic parasitic infection in Mediterranean countries. We report an interesting case occurring in a 38-year-old woman suffering from systemic lupus erythematosus and secondary antiphospholipid syndrome. In our patient visceral leishmaniasis occurred during high dose-steroids treatment mimicking a flare of lupus. As the lupus resolved under immunosuppressive treatment, a reactivation of visceral leishmaniasis was observed and was confirmed by the successive serological tests which showed crossing of leishmania and antinuclear antibody titers. Our case shows that, faced with fever occurring in lupus patients in an endemic area, visceral leishmaniasis should be searched for before intensifying immunosuppressive treatments.
Erdheim-Chester disease is a rare, non-Langerhans cell form of histiocytosis characterized by osteosclerosis of the metaphyseal regions of long bones, diabetes insipidus, proptosis, and retroperitoneal fibrosis. The latter usually involves the perirenal area and leads to hydronephrosis. Periaortic fibrosis is less frequent. We describe 3 unusual cases of Erdheim-Chester disease with periaortic fibrosis involving the whole aorta and leading to a "coated aorta" appearance on computed tomography scans. Faced with such a singular "coated aorta," bone scintigraphy can be very helpful when searching for Erdheim-Chester disease.
BACKGROUND: We observed two cases of juvenile endarteritis which might suggest a possible link between Winiwarter-Buerger disease and cannabis-induced endarteritis. CASE REPORTS: Our two patients were young men aged 18 and 20 years. Both developed acute distal ischemia of the lower or upper limbs with arteriographic evidence suggestive of Winiwarter-Buerger disease. Both smoked regularly but not excessively and both used cannabis regularly. In one case, the therapeutic response to withdrawal of cannabis was good. In the second, use of cannabis continued and arterial disease persisted. DISCUSSION: The cause of Winiwarter-Buerger disease remains elusive although smoking is undoubtedly involved in the pathogenic mechanism. Our two cases recall the cannabis-induced endarteritis described in the sixties in Kif smokers in North Africa. The main clinical and radiographical features in this condition are the same as in Winiwarter-Buerger disease. CONCLUSION: Winiwarter-Buerger disease and cannabis-induced endarteritis are 2 very similar conditions. The probably rare finding of juvenile endarteritis mimicking thromboangeitis obliterans should, in our opinion, be considered as a secondary and possibly toxic effect of cannabis.
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Intracardiac thrombi have rarely been reported in patients with the antiphospholipid syndrome. We describe a new case revealed by systematic echocardiography in an asymptomatic woman who consulted for mild thrombocytopenia. Our case is characterized by a past history of migraine, fetal loss and psychiatric disturbances and by a high level of antiphospholipid antibodies (anticardiolipin, anti-beta(2)-glycoprotein I and lupus anticoagulant). Echography, in the absence of any cardiovascular symptom, showed bulky right intra-atrial thrombi requiring surgical excision. Histopathological analysis revealed the fibrino-cruoric nature of the lesion without myxoma. This case shows that, when faced with a mild thrombocytopenia associated with antiphospholipid antibodies, echocardiography may reveal a life-threatening and completely asymptomatic intracardiac thrombosis.
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