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The objective of this study was to assess the interest of antiphosphatidylethanolamine antibodies (aPE) in unexplained thrombosis (UT) defined as thrombotic episode without any of the main autoimmune and hereditary thrombophilic defects. Results from 98 UT were compared to those of (I) 142 patients with thrombophilia: 67 antiphospholipid syndrome (APS) and 75 hereditary hemostatic defects (HHD); (II) 110 patients without thrombosis: 60 with systemic lupus erythematosus (SLE) and 50 with infectious diseases (ID). As compared to controls (100 blood donors), aPE prevalence was significantly higher in both autoimmune contexts (APS: 43%; SLE: 40%, p<0.0001) and among non-autoimmune pathologies, only in UT (18%, p = 0.001) conversely to HHD (8%) or ID (10%). aPE prevalence in UT was not statistically different from that found in Primary APS (32%, p = 0.076) but lower than in Secondary APS (65%, p <0.005). In UT, aPE were mainly of IgM isotype like in Primary APS and they were found alone whereas in SLE they were always associated with classical antiphospholipid antibodies. No significant association was found between any isotype of aPE and a site of thrombosis in UT as well as in APS. In conclusion, this study demonstrates an increase of the prevalence of aPE in patients with unexplained thrombosis. Thus, aPE investigation appears to be of interest in UT and their persistent presence could define a biological variant of APS.

Background: Sicca syndrome after Stevens-Johnson syndrome is classically described. However, to our knowledge, authentic Sjögren's syndrome following epidermal necrolysis has not been described previously., Case Report: A 36-year-old woman with Steven-Johnson syndrome developed transient hepatitis and a persistent sicca syndrome. Fourteen years later an authentic Sjögren's syndrome was identified with presence of antinuclear and anti-SSA antibodies and lymphocytes infiltration of the accessory salivary glands, i.e. grade IV disease in the Chisholm classification., Discussion: The initial mucosal destruction observed in our patients may have laid the ground for Sjögren's syndrome via abnormal antigen presentation in a predisposed dysimmune context.

Introduction: Neurological involvement is observed in 5% of cases of sarcoidosis and includes impairment of the central nervous system, the meninges, and the cranial and peripheral nerves. Besides neurological defects, cognitive impairment may be encountered ranging from isolated memory defect to dementia., Exegesis: We report a case of neurosarcoidosis occurring in a 40-year-old woman, a native of Reunion Island, with initial meningeal and hypophyseal involvement. Three years later, while treated with low dose prednisolone and methotrexate, she presented a paranoid state associated with cognitive impairment of frontal type and severe behavioral disturbances. After 2 years of high dose steroid treatment associated with hydroxychloroquine, her behavioral status improved, allowing social and familial reinsertion., Conclusion: In our observation, sarcoidosis was revealed through a central neurological impairment, with chronic meningitis, facial nerve palsy, and, finally, through psychiatric symptoms and severe behavioral disturbances. A slow favorable outcome was obtained using high dose methylprednisolone and hydroxychloroquine with total regression of behavioral disturbances but with persisting cognitive alteration.

Albumin Kenitra is a new type of genetic variant of human serum albumin that has been found in two members of a family of Sephardic Jews from Kenitra (Morocco). The slow-migrating variant and the normal protein were isolated by anion-exchange chromatography and, after treatment with CNBr, the digests were analyzed by two-dimensional electrophoresis in a polyacrylamide gel. The CNBr peptides of the variant were purified by reverse-phase high performance liquid chromatography and submitted to sequence analysis. Albumin Kenitra is peculiar because it has an elongated polypeptide chain, 601 residues instead of 585, and its sequence is modified beginning from residue 575. DNA structural studies showed that the variant is caused by a single-base insertion, an adenine at nucleotide position 15 970 in the genomic sequence, which leads to a frameshift with the subsequent translation to the first termination codon of exon 15. Mass spectrometric analyses revealed that the four additional cysteine residues of the variant form two new S-S bridges and showed that albumin Kenitra is partially O-glycosylated by a monosialylated HexHexNAc structure. This oligosaccharide chain has been located to Thr596 by amino-acid sequence analysis of the tryptic fragment 592-597.

Occupational exposure to vinyl chloride monomers is known to induce Raynaud's phenomenon, periportal fibrosis, liver angiosarcoma and scleroderma-like syndrome. We report the first case of occupational polymyositis in a 58-year-old man exposed to vinyl chloride. A dysimmune process was strongly suspected as having induced vinyl chloride disease. Our patient had an anti-histidyl-t-RNA-synthetase (Jo1) antibody, which has never to our knowledge been reported in this occupational disease.

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.

We report the first case of generalized granuloma annulare occurring in a 65-year-old woman who was chronically infected with hepatitis C virus. Granuloma annulare totally regressed during alpha-interferon treatment. As chronic hepatitis C virus infection is frequent, a serodiagnosis would be of interest in patients who have generalized granuloma annulare. A link between these 2 diseases may be strongly suspected.

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.

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.

Background: The underlying cause of camptocormia, a common condition in adults consisting of forward flexion of the trunk both in stance and gait, is often unrecognized, attributed by some to primary late-onset myopathy., Case Reports: Two patients progressively developed camptocormia. The cause was identified as a relatively new disease, proximal myotonic myopathy., Discussion: The diagnosis of proximal myotonic myopathy is based on clinical findings: myalgia and diffuse pain, gait disorders and progressive weakness of proximal muscles, electrical myotonia, cataracte in some cases, elevated gamma glutamyltranspeptidases. The disease is transmitted by autosomal dominant inheritance. This condition should be entertained as a possible cause in patients presenting an apparently primary camptocormic syndrome.

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.

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.

Aims: Gamma-delta (gammadelta) T-cell non-Hodgkin's lymphomas (NHLs) usually present with liver, spleen and marrow infiltration. Lymph node involvement by gammadelta T-cell NHL has been rarely documented so far; its histological pattern needs to be further defined., Methods and Results: Two cases of nodal gammadelta T-cell NHL are reported: case 1, a 44-year-old man, presented with cytomegalovirus retinitis and superficial lymphadenopathies. Histological analysis of an inguinal lymph node showed complete destruction by a diffuse pleomorphic lymphoid proliferation, which was positive for CD2, CD3, CD43, CD45, TIA-1 and granzyme B, and displayed a gammadelta phenotype (deltaTCR1+, Vdelta1+, Vdelta2-, Vdelta3-, betaF1-). Bone marrow was normal. Case 2, a male 24-year-old patient with a history of renal transplantation, presented with hepatosplenomegaly and supraclavicular lymph node enlargement. Lymph node architecture was globally preserved. Peripheral sinuses contained scattered nests of medium-sized irregular lymphoid cells. Bone-marrow was infiltrated. Phenotype showed positivity for CD2, CD3, CD45 and TIA1 and expression of gammadelta TCR (deltaTCR1+, deltaV1+, deltaV2-, deltaV3-, betaF1-). Both patients died a short time after diagnosis., Conclusions: These observations suggest that at least two forms of nodal gammadelta T-cell NHL may be encountered: one mimicking classical alphabeta T-cell NHL, with diffuse pleomorphic cell proliferation, and one displaying sinusoidal neoplastic infiltration suggesting a close relationship with hepatosplenic gammadelta T-cell NHL.

Co-occurrent autoimmune disease and fragile X syndrome has been reported in the literature and we have therefore studied the expansion of Cytosine-Guanine-Guanine (CGG) repeat in FMR1 gene in a series of females with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome, with PCR and Southern blot methods. The average length of trinucleotide repeat was not increased in these female patients as compared with controls. These preliminary data on a short series of patients suggest a possible absence of trinucleotide repeat expansion abnormality associated with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome.

Background: Behçet's disease is an uncommon cause of prolonged fever. This misleading presentation is illustrated by a new case where fever occurred after polyvalent vaccination., Case Report: A 39-year-old female patient was seen for prolonged fever after returning from a trip to Africa. She had received polyvalent vaccinations prior to leaving France. At admission fever had persisted for 2 months. The diagnosis of Behçet's disease was finally established on the basis of clinical signs, buccogenital aphtosis and pathergy. Colchicine was partially effective against although low-grade persisted in the evening., Discussion: Clinicians should be aware that Behçet's disease can provoke long-term fever which can sometimes be an inaugural sign. Sensitivity tests may be useful to identify the trigger, for example polyvalent vaccination.

We report the first case of livedo reticularis revealing a latent infective endocarditis due to Coxiella burnetti. The patient, a 54-year-old woman, also had chronic thrombocytopenia and mixed cryoglobulinemia. Chronic Q fever was confirmed by serodiagnosis and livedo regressed totally with doxycycline and hydroxychloroquine.

Arterial reactivity leading to acute thrombosis at the site of a needle stick injury has never been described during antiphospholipid syndrome. The authors report a case characterized by a succession of thrombotic events occurring during or immediately after arterial angiographies or arterial surgery, in which catastrophic arterial reactivity can be strongly suspected. In this particular patient, it can be postulated that damage to the endothelial cells of the vessels injured during manipulation may have precipitated or aggravated the preexisting susceptibility to thrombosis.

Objectives: The purpose of this study was to assess the value and limitations of Duke criteria for the diagnosis of infective endocarditis (IE)., Background: Duke criteria have been shown to be more sensitive in diagnosing IE than the von Reyn criteria, but the diagnosis of IE remains difficult in some patients., Methods: Both classifications were applied in 93 consecutive patients with pathologically proven IE. Blood cultures, and transthoracic and transesophageal echocardiography were performed in all patients., Results: Sensitivities for the diagnosis of IE were 56% and 76% for von Reyn and Duke criteria, respectively. Fifty-two patients were correctly classified as "probable IE" by von Reyn and "definite IE" by Duke criteria (group 1). However, discrepancies were observed in 41 patients. Eleven patients (group 2) were misclassified as "rejected" by von Reyn, but were "definite IE" by Duke criteria; this difference could be explained by negative blood cultures and positive echocardiogram in all patients. In eight patients (group 3), the diagnosis of IE was "possible" by von Reyn but "definite" by Duke criteria. This difference was essentially explained by the failure of the von Reyn classification to consider echocardiographic abnormalities as major criteria. Twenty-two patients (group 4) were misclassified as possible IE using Duke criteria, being false negative of this classification. Echocardiographic major criteria were present in 19 patients, but blood cultures were negative in 21 patients. The cause of negative blood cultures was prior antibiotic therapy in 11 patients and Q-fever endocarditis diagnosed by positive serology in three cases., Conclusions: Twenty-four percent of patients with proved IE remain misclassified as "possible IE" despite the use of Duke criteria, especially in cases of culture-negative and Q-fever IE. Increasing the diagnostic value of echographic criteria in patients with prior antibiotic therapy and typical echocardiographic findings and considering the serologic diagnosis of Q fever as a major criterion would further improve the clinical diagnosis of IE.

Introduction: Good's syndrome is defined as the association of thymoma, hypogammaglobulinemia, and repetitive bronchopulmonary infections. We report one case and review the clinical and immunological features of this syndrome., Exegesis: We describe the case of a 67-year-old man who presented with both severe bronchopulmonary infection resistant to antibiotherapy and thymoma. Definite diagnosis was based on the existence of hypogammaglobulinemia. Treatment with intravenous immunoglobulins led to positive outcome., Conclusion: Good's syndrome occurs in only 5% of parathymic diseases. To prevent further bronchial tube destruction and pulmonary surgery, it must be diagnosed and treated early.

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.

We report an unusual case of Cushing's syndrome manifested by anxiety over body image in a 26-year-old nurse. Initial presentation was a 'dermatological non-disease'. Clinical signs became increasingly evident during the course of the disease, justifying an adrenal gland evaluation which showed a secreting adrenocortical adenoma. Surgical treatment led to recovery with return to normal appearance and cessation of her aesthetic complaints. Our observation shows that persistent aesthetic complaints may sometimes reveal early hypercorticism.

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., (Copyright 2000 S. Karger AG, Basel)

The authors report the observation of a 31-year-old woman who presented with total occlusion of digestive arteries and was successfully treated pharmacologically. A review of the literature shows that digestive arteries thrombosis is a rare condition in young women. Only 15 cases have been previously reported. Prognosis was poor with a mortality rate of 71%; 93% used oral contraception and more than 50% were smokers. All these cases were curiously similar. The authors accentuate the role of iloprost in the recovery of the patient. Digestive artery occlusion should be taken into consideration in the differential diagnosis of abdominal pain, especially in young women who smoke and take estrogen-containing birth control pills.

Introduction: Auto-immune thrombocytopenic purpura is associated with platelet anti-glycoprotein antibodies, particularly with anti-GPIIb/IIIa complex. Persistence of these antibodies sometimes leads to acquired auto-immune thrombopathy., Exegesis: We report the case of a woman treated by splenectomy for auto-immune thrombocytopenic purpura, who developed 5 years later an ecchymotic syndrome despite normal platelet count. High bleeding time and platelet aggregation defect in vitro were evidenced. Following the initial thrombocytopenia, anti-glycoproteins GPIIb/IIIa with lupus anticoagulant and benign monoclonal gammapathy were noticed. Platelet controls showed that hypoaggregant activity was secondary to the persistence of anti-GPIIb/IIa antibodies., Conclusion: This acquired auto-immune thrombopathy simulating Glanzmann's thrombasthenia was secondary to the persistence of platelet anti-glycoproteins GPIIb/IIIa.

The pathophysiology of migraine remains unclear. To incriminate a comorbid factor is always hypothetical, even if suppression of this factor appears to prevent the migrainous attacks. In our patient, treatment of coeliac disease coincided with total disappearance of severe migraine attacks. Moreover, the coeliac disease was first revealed during the evaluation of a migraine with aura.

Three cases of giant hemangioma of the liver associated with clinical and laboratory signs of inflammatory process, including low-grade fever, weight loss, abdominal pain, accelerated erythrocyte sedimentation rate, anemia, thrombocytosis, and increased fibrinogen level with normal white blood cell count are described. One patient presented with slight cholestatic jaundice because of tumor-related bile duct compression, but the other two patients had normal liver function tests, except for a slight increase in gammaglutamyl transferase. Clinical and laboratory abnormalities disappeared after surgical excision. Inflammatory manifestations have rarely been reported during giant liver hemangioma. Intratumoral inflammation necrosis or bleeding could explain the symptoms but histological signs of inflammation were not detected in two of three surgical specimens. The release of immune mediators by liver endothelial cells lining the hemangioma is an alternative explanation. The incidence of inflammatory process complicating giant hemangioma is probably underestimated because our three cases were observed within a span of only 3 years., (Copyright 1998 W.B. Saunders Company.)

Antiphospholipid syndrome is characterized by thromboses, fetal losses and antiphospholipid antibodies. This group of antibodies includes lupus anticoagulant, false positive syphilitic reaction, anionic (such as anticardiolipin) and neutral phospholipids antibodies, and anti-phospholipid/cofactors antibodies (such as anti-beta 2-glycoprotein 1). Dominant manifestations are recurrent thrombophlebitis and pulmonary embolism, arterial occlusive disease of young people, obstetrical complications such as fetal losses, livedo, and thrombocytopenia. Warfarin is presently the main treatment.