Introduction. - Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is defined as recurrent attacks of generalized inflammation for which no infectious or auto-immune cause can be identified; it is caused by dominantly inherited mutations in the gene encoding the first TNF receptor. We report two additional cases of patients with TRAPS, suggesting that mutation pattern of TNFRSF 1A gene may influence the TRAPS phenotype.Case reports. - The first patient, with a C30S mutation, exhibited severe digestive clinical manifestations; because the patient required high-dose corticosteroids regimen to improve TRAPS manifestations, he was further given successfully etanercept. The second patient, with a R92Q mutation of TNFRSF 1A gene, presented with moderate symptoms; TRAPS outcome was favourable after corticosteroid therapy initiation.Conclusion. - Therefore, R92Q may be associated with a mild disease phenotype. On the other hand, C30S mutation appears to be associated with a severe phenotype, leading to an increased risk of amyloidosis. These findings suggest that these latter patients may require a closer follow-up. (C) 2010 Societe nationale francaise de medecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Wegener's disease (WD) is a systemic necrotizing vasculitis of small-sized arteries that predominantly affects the upper and lower respiratory tract and the kidneys (1). Gastrointestinal (GI) invol...

Ferritin is an intracellular blood protein that contains iron, covid-19 diseases is an infectious disease caused by a virus called corona virus, the infected person mostly experiences mild to moderate respiratory illness ferritin level in blood mostly depend on severity of the covid-19 disease. Ferritin level could be used as an indicator for the covid-19 disease. Within 120 corona virus patients that used as individual in this study, the ferritin level in the blood were tested, also each of (D-Dimer, ESR, C.R protein) Depend on the results, the patients with over 60 years have a high ferritin level also the d-dimer were abnormal with 65% higher than normal range.

The objectives of this study were to evaluate: (1) the prevalence of anti-PM-Scl antibodies within the framework of antinuclear antibodies detection; and (2) the clinical features and outcome of patients with isolated polymyositis/dermatomyositis.Nine thousand and sixty-four consecutive antinuclear testing data allowed us to evaluate anti-PM-Scl antibody prevalence. Second, we also assessed the characteristics of patients with isolated dermatomyositis/polymyositis and associated anti-PM-Scl antibody.Over 9064 consecutive antinuclear samples tested for antinuclear antibodies, 3263 (36%) were positive; anti-PM-Scl antibody were positive in nine patients: 0.1% of all sera, 0.2% of sera positive for antinuclear antibodies, 1.2% of sera positive for anti-ENA antibodies. Four of the nine patients with anti-PM-Scl antibody had dermatomyositis (n=3) and polymyositis (n=1). Patients with dermatomyositis/polymyositis and anti-PM-Scl antibody exhibited severe complications, as follows: ventilatory insufficiency (n=2) requiring mechanical ventilation in one case, esophageal involvement requiring enteral feeding (n=1); also, two of these patients had cancer.Our case series suggests that the presence of anti-PM-Scl antibody is not a favorable prognostic factor in patients with dermatomyositis/polymyositis. This type of antibody appears to be associated with lung and esophageal involvement; in addition, anti-PM-Scl antibody may co-exist with malignancy in PM/DM patients. Taken together, we suggest that patients with dermatomyositis/polymyositis and anti-PM-Scl antibody require both initial evaluation for lung/digestive manifestations and cancer and close surveillance.

Sir, Sarcoidosis is an immune-mediated condition affecting numerous organs, especially the lungs, lymph nodes, skin and eyes.1 Although asymptomatic muscle involvement is common in sarcoidosis (50–80% of histological cases), symptomatic myopathy is rare, being encountered in 0.5–2.3% of the patients.1 We recently observed a case of symptomatic myositis revealing a recurrence of sarcoidosis with favorable outcome after initiation of infliximab; our case is of particular interest, as it indicates that whole body fluorodeoxyglucose positron emission tomography (FDG-PET) is a useful test for both diagnosis and follow-up of myopathy in sarcoidosis. A 43-year-old man was diagnosed as having both biopsy-proven pulmonary and muscle sarcoidosis in October 2005. In October 2008, the patient was asymptomatic; he still received combined therapy of prednisone (15 mg daily) and methotrexate (30 mg weekly), and steroid therapy regimen was reduced (12.5 mg per day). In January 2009, the patient was admitted for a 2-month history of myalgia and muscle weakness involving his lower limbs; …

Purpose. - The objectives of this study were to evaluate: (1) the prevalence of anti-PM-Scl antibodies within the framework of antinuclear antibodies detection; and (2) the clinical features and outcome of patients with isolated polymyositis/dermatomyositis.Methods. - Nine thousand and sixty-four consecutive antinuclear testing data allowed us to evaluate anti-PM-Scl antibody prevalence. Second, we also assessed the characteristics of patients with isolated dermatomyositis/polymyositis and associated anti-PM-Scl antibody.Results. - Over 9064 consecutive antinuclear samples tested for antinuclear antibodies, 3263 (36%) were positive; anti-PM-Scl antibody were positive in nine patients: 0.1% of all sera, 0.2% of sera positive for antinuclear antibodies, 1.2% of sera positive for anti-ENA antibodies. Four of the nine patients with anti-PM-Scl antibody had dermatomyositis (n = 3) and polymyositis (n = 1). Patients with dermatomyositis/polymyositis and anti-PM-Scl antibody exhibited severe complications, as follows: ventilatory insufficiency (n = 2) requiring mechanical ventilation in one case, esophageal involvement requiring enteral feeding (n = 1): also, two of these patients had cancer.Conclusion. - Our case series suggests that the presence of anti-PM-Scl antibody is not a favorable prognostic factor in patients with dermatomyositis/polymyositis. This type of antibody appears to be associated with lung and esophageal involvement; in addition, anti-PM-Scl antibody may co-exist with malignancy in PM/DM patients. Taken together, we suggest that patients with dermatomyositis/polymyositis and anti-PM-Scl antibody require both initial evaluation for lung/digestive manifestations and cancer and close surveillance. (C) 2010 Societe nationale francaise de medecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

BACKGROUND:To date, no series has analysed long-term outcome in patients with polymyositis/dermatomyositis (PM/DM) with anti-PM-Scl antibody.OBJECTIVES:The aims of the present study were: (i) to assess clinical features and long-term outcome, including organ complications, functional course and mortality rate, in patients with isolated PM/DM with anti-PM-Scl antibody; and (ii) to evaluate prevalence, characteristics and long-term outcome of interstitial lung disease (ILD) in patients with isolated PM/DM with anti-PM-Scl antibody.METHODS:The medical records of 20 consecutive patients with isolated PM/DM with anti-PM-Scl antibody were reviewed.RESULTS:Two patients (10%) achieved remission of PM/DM, whereas 14 (70%) improved and four (20%) had a worsened clinical status. Short-term recurrences (during tapering of therapy) occurred in nine patients and long-term recurrences (after discontinuation of therapy) in three patients. Moreover, patients with PM/DM with anti-PM-Scl antibody exhibited severe complications, as follows: oesophageal involvement (n = 4) requiring enteral feeding in three cases, ventilatory insufficiency (n = 3) requiring mechanical ventilation in two cases; three other patients had cancer. Interestingly, patients with PM/DM with anti-PM-Scl antibody often presented symptoms that are usually found in antisynthetase syndrome, i.e. hyperkeratotic rhagadiform hand symptoms (n = 2; 10%), Raynaud's phenomenon (n = 8; 40%), arthralgia/arthritis (n = 7; 35%) and ILD (n = 12; 60%). In our cohort, the associated ILD often required combined therapy of steroids and immunosuppressive agents.CONCLUSIONS:Our series suggests that the presence of anti-PM-Scl antibody is not a good prognostic factor in patients with PM/DM, as there appears to be an association with lung and oesophageal involvement; in addition, anti-PM-Scl antibody may coexist with malignancy in patients with PM/DM. Furthermore, anti-PM-Scl antibody-positive patients with PM/DM often exhibit 'mechanic's hands', Raynaud's phenomenon and joint involvement. Our latter findings raise the possibility that the immunogenetic background influences the autoantibody status of these patients; HLA-DR3 has, in fact, been found in association with antisynthetase syndrome antibodies and with anti-PM-Scl antibodies.

SIR, Relapsing polychondritis (RP) is a systemic disorder, which is characterized by recurrent inflammation and destruction of cartilage structure [1]. Auricular, nasal, ocular, tracheobronchial and articular impairment are well-recognized manifestations of RP [1]. Aortic involvement is considered to be rare, and usually occurs during the course of the disease [2–3]. We recently observed a new case, which is of particular interest as the patient developed aortic involvement, revealing a recurrence of refractory RP, with favourable outcome after initiation of infliximab. A 38-year-old woman presented in July 2005 with a 2-month history of asthenia and abdominal pain. She was diagnosed as having RP in March 2004 because of the following manifestations: bilateral auricle chondritis, nasal chondritis, hoarseness of the voice and ocular inflammation. The patient was given prednisone (at an initial dose of 1mg/kg daily), resulting in improvement of clinical symptoms of RP. In May 2004, the patient received MTX (20mg weekly); she developed hepatic cytolysis, resulting in MTX discontinuation. In June 2004, the patient further received AZA (150mg daily). When steroid regimen was reduced (7.5mg/day), the patient relapsed in July 2005. Indeed, she experienced bilateral auricle chondritis, nasal chondritis, hoarseness of the voice and ocular inflammation; she also complained concomitantly of abdominal pain. At admission, the patient had no fever; physical examination also revealed tender abdomen on palpation. Laboratory studies disclosed the following: ESR: 86mm/h, CRP: 130mg/l, haemoglogin: 11.5 g/dl, white blood cell count: 8.1 10/l, platelet count: 401 10/l; findings of renal and liver tests as well as blood electrophoresis were normal. CT scan of both lungs and abdomen showed circumferential thickening of the abdominal aortic wall. Blood cultures and bacterial serologies (especially Treponema pallidum) were negative; autoantibody screening was also negative for RFs, ANAs and anti-cytoplasmic antibodies. The diagnosis of RP aortic involvement was conducted. The patient was given combined therapy of prednisone (1mg/kg daily) and pulses of cyclophosphamide (0.7 g/m, monthly). Four months later, the patient still exhibited severe ocular inflammation and abdominal pain. CT scan demonstrated aortic aneurysm located on the abdominal aorta and circumferential thickening of the abdominal aortic wall (Figs 1 and 2). Because RP was refractory to steroid/immunosuppressive therapy, the patient was given anti-TNF: infliximab (5mg/kg) at weeks 0, 2, 6 and then 8 weekly. Infliximab therapy resulted in resolution of ocular inflammation; repeated CT scan showed improvement of aortic impairment. At 3-year follow-up, the patient is symptom free, receiving prednisone (3mg daily) and infliximab (5mg/kg, every 2 months); repeated CT scan showed no deterioration of aortic localizations. Aortic involvement is rare in RP, being encountered in 4–9% of the patients [2–3]. Aortic impairment may lead to life-threatening complications in patients with RP, such as severe aortic insufficiency, active aortitis and aortic aneurysm [2–3]. Optimal therapy for management of patients with RP remains unclear; steroids and immunosuppressive drugs (AZA, MTX and cyclophosphamide) can decrease the frequency, duration and severity of recurrences, although they might not be able to stop disease progression [2–3]. Recently, few investigators have also suggested that other immunosuppressive agents may be an effective therapy for RP, i.e. LEF (by controlling T lymphocyte-mediated autoimmunity) [4] and IL-1 receptor antagonist anakinra [5, 6], although no definite conclusion can be drawn from these latter data. After several immunosuppressive drugs had failed to control RP-related aortic involvement in our patient, infliximab was used, although anti-TNFagents have not yet been licensed for the therapy of RP; however, because TNFhas a potential pathological role in RP, anti-TNFagents may, in fact, be of therapeutic benefits in patients with RP refractory to conventional drugs. Indeed, RP bears many of the hallmarks of a FIG. 1. CT scan, in our patient with RP, showed aortic aneurysm located on the abdominal aorta. F: front.

Internal Medicine JournalVolume 39, Issue 11 p. 781-783 Watermelon stomach revealing generalized essential telangiectasia F. Tetart, F. Tetart Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorA. Lorthioir, A. Lorthioir Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorN. Girszyn, N. Girszyn Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorL. Lahaxe, L. Lahaxe Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorP. Ducrotté, P. Ducrotté Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorI. Marie, I. Marie Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this author F. Tetart, F. Tetart Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorA. Lorthioir, A. Lorthioir Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorN. Girszyn, N. Girszyn Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorL. Lahaxe, L. Lahaxe Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorP. Ducrotté, P. Ducrotté Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this authorI. Marie, I. Marie Department of Internal Medicine, Rouen University Hospital, Rouen Cedex, FranceSearch for more papers by this author First published: 04 November 2009 https://doi.org/10.1111/j.1445-5994.2009.02048.xCitations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 McGrae F, Winkelmann R. Generalized essential telangiectasia. JAMA 1963; 12: 909– 13. 2 Ali MM, Teimory M, Sarhan M. Generalized essential telangiectasia with conjunctival involvement. Clin Dermatol 2006; 31: 781– 2. 3 Gentele H, Lodin A. Telangiactasia essentialis generalisata of unknown origin. Acta Derm Venereol 1957; 37: 465– 70. 4 Jabbari M, Cherry R, Lough JO, Daly S. Gastric antral vascular ectasia: the watermelon stomach. Gastroenterology 1984; 87: 1165– 70. 5 Gostout CJ, Viggiano TR, Ahlquist DA, Wang KK, Larson MV, Balm R. The clinical and endoscopic spectrum of the watermelon stomach. J Clin Gastroenterol 1992; 15: 256– 63. 6 Lecleire S, Ben-Soussan E, Antonietti M, Goria O, Riachi E, Lerebours E et al. Bleeding gastric antral vascular ectasia treated by argon plasma coagulation: a comparison between patients with and without cirrhosis. Gastrointest Endosc 2008; 67: 219– 25. 7 Sebastian S, O'Morain CA, Buckley MJ. Review article: current therapeutic options for gastric antral vascular ectasia. Aliment Pharmacol Ther 2003; 18: 157– 65. 8 Suit PF, Petras E, Bauer TW, Petrini JL. Gastric antral vascular ectasia: a histologic and morphometric study of the ‘watermelon stomach. Am J Surg Pathol 1987; 11: 750– 7. 9 Checketts SR, Burton PS, Bjorkman DJ, Kadunce DP. Generalized essential telangiectasia in the presence of gastrointestinal bleeding. J Am Acad Dermatol 1997; 37: 321– 5. 10 Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 333: 918– 24. Citing Literature Volume39, Issue11November 2009Pages 781-783 ReferencesRelatedInformation

L’hémangioendothéliome épithélioïde (HHE) est une tumeur rare mésenchymateuse d’origine vasculaire et d’aspect épithélial, qui se développe, comme l’angiosarcome, pour caricaturer des cellules endothéliales. D’après la littérature, son pronostic est variable et demeure imprévisible.Nous rapportons l’observation d’un homme âgé de 72 ans se plaignant de douleurs d’horaire inflammatoire du membre inférieur gauche. Plusieurs lésions ostéolytiques intéressant le genou, le tiers supérieur du tibia, la malléole externe et le calcanéum gauche étaient découvertes. Le diagnostic d’HHE osseux était posé par l’examen histologique d’un prélèvement osseux. Le patient décédait 5 mois plus tard, malgré une chimiothérapie par taxol.Aucune conduite à tenir thérapeutique n’est actuellement standardisée dans ce type de cancer.Epithelioid hemagioendothelioma (HHE) is a rare mesenchymal tumor of vascular origin and epithelial appearance, which develops like angiosarcoma to mimic endothelial cells. According to the literature, its prognosis is variable and remains unpredictable.We report a 72-year-old man who presented with an inflammatory pain in the left lower limb. Several osteolytic lesions involving the knee, the upper third of the tibia, the medial malleolus and the left calcaneus were identified. The diagnosis HHE was obtained by histological examination of a bone sample. The patient died after 5 months, despite taxol chemotherapy.No therapeutic behavior is standardized in this uncommon type of cancer.

Introduction. - Bilateral hilar lymphadenopathy, with or without lung parenchymal infiltrates, is the most common radiographic finding in patients with sarcoidosis. Atypical Pulmonary findings have been uncommonly reported and include multiple large lung nodules, cavitation, lobar collapse, pleural effusions or pneumothorax.Observation. - We report a 21-year-old non caucasian patient who presented with pulmonary nodular infiltration and sinonasal involvement revealing sarcoidosis. Thoracic and sinus computed tomographic scan showed both multiple excavated large lung nodules and micronodules, hilar lymphadenopathy and sinus thickening. Laboratory studies disclosed elevated angiotensin converting enzyme serum level (120 UI/L). Outcome was favorable after institution of corticosteroids (at an initial dose of prednisone of 1 mg/kg/day); at eight-month-follow-up, the patient was asymptomatic, while receiving prednisone 22.5 mg/day.Conclusion. - In patients exhibiting unusual pulmonary manifestations, diagnosis of sarcoidosis relies on compatible clinical signs, evidence of non-caseating granulomas, and exclusion of underlying conditions including infections, malignancy and other granulomatous diseases (Wegener disease, pneumoconiosis). (c) 2008 Elsevier Masson SAS. Tous droits reserves.

To date, only a few series have analyzed the long-term outcome of giant cell arteritis (GCA) patients with aortic involvement, which prompted us to conduct the current retrospective study. Our aims were to 1) determine the prevalence of GCA in patients exhibiting nonatherosclerotic aortic involvement (that is, aortitis, aortic ectasia, and/or aneurysm); and 2) evaluate clinical features and long-term outcome of GCA patients exhibiting aortitis, aortic ectasia, and/or aortic aneurysm. From January 1997 to March 2008, 66 consecutive patients in the Department of Internal Medicine at the University of Rouen medical center received a diagnosis of nonatheromatous aortic complications (aortitis, aortic ectasia, and/or aneurysm). In these 66 patients, aortic involvement was related to GCA (n = 48), Takayasu arteritis (n = 6), relapsing polychondritis (n = 1), and infection (n = 11). Of the 48 patients with GCA, aortic involvement preceded the initial GCA diagnosis in 1 patient. Aortic involvement was identified in association with GCA in 40 patients (83.3%), and developed after the onset of GCA in the 7 remaining patients (14.6%). Aortic involvement was more often asymptomatic (77.1%). The aortic helical computed tomography (CT)-scan procedure principally showed isolated aortitis (circumferential thickening of the aortic wall >3 mm) in 41 patients (85.4%). In the remaining 7 patients with GCA (14.6%), aortic helical CT scan demonstrated aortic thoracic ectasia and aortitis (n = 3), aortic thoracic aneurysm and both thoracic and abdominal aortitis (n = 3), and both aortic abdominal aneurysm and aortitis (n = 1). All patients were given steroid therapy at a median daily dose of 1 mg/kg initially. At 6-month follow-up, 34 of 48 patients systematically underwent both thoracic and abdominal CT scan. Aortic helical CT scan demonstrated complete disappearance of aortitis in 8.8% of patients, improvement of aortitis in 47.1%, unchanged pattern of aortitis and/or aortic thoracic ectasia/aneurysm in 41.2%, and deterioration of aortic thoracic aneurysm in 1 patient (2.9%). At 18-month follow-up, 11 patients systematically underwent both thoracic and abdominal CT scan. Aortic helical CT scan showed complete disappearance of aortitis (n = 1), improvement of aortitis (n = 1), unchanged pattern of aortic thoracic ectasia/aneurysm (n = 2), and deterioration of aortic thoracic aneurysm (n = 1). At patients' last follow-up, the median daily dose of prednisone was 7 mg. Steroid therapy could be discontinued in 17 patients (35.4%). The current retrospective study suggests that aortic impairment may be more prevalent than previously reported. Our findings suggest that specific inflammatory thickening of the aortic wall is common at the time of GCA diagnosis, and that aortitis may be the first manifestation of GCA-associated aortic complications. Whether isolated aortitis leads to vascular wall injury responsible for late-onset aneurysmal disease remains to be determined. At this time, we recommend long-term monitoring for aortic aneurysms, especially in high-risk subjects, although the optimal frequency and imaging modality have not yet been determined. A yearly screening strategy for thoracic/abdominal aortic aneurysms has been proposed for patients with GCA, including physical examination, 2-view chest radiograph, and abdominal ultrasound. Abbreviations: acL = anticardiolipin, CRP = C-reactive protein, CT = computed tomography, ESR = erythrocyte sedimentation rate, FDG = fluorodeoxyglucose, GCA = giant cell arteritis, MRI, magnetic resonance imaging, PET = positron emission tomography.