[TRAPS: clinical significance of genotype. A report of two cases]. / TRAPS : influence du génotype sur l'expression de la maladie. À propos de deux observations.

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.

[Idiopathic inflammatory myopathies with anti-PM-Scl antibodies: case series and literature review]. / Myopathies inflammatoires et anticorps anti-PM-Scl: à propos d'une série et revue de la littérature.

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.

Long-term outcome of patients with polymyositis/ dermatomyositis and anti-PM-Scl antibody.

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.

[Uncommon manifestation revealing sarcoidosis]. / Un mode de révélation inhabituel de la sarcoïdose.

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 (120UI/L). Outcome was favorable after institution of corticosteroids (at an initial dose of prednisone of 1mg/kg/day); at eight-month-follow-up, the patient was asymptomatic, while receiving prednisone 22.5mg/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).

Intravenous immunoglobulin-associated cranial pachymeningitis.

To date, intravenous immunoglobulin (IvIg) has more often been considered as a safe medication. However, with the wider use of IvIg, severe side effects have also been reported to occur in IvIg-treated patients, notably aseptic meningitis. Other neurological complications have more rarely been described in patients receiving IvIg therapy, e.g. stroke or acute encephalopathy. We recently observed a case which is of particular interest, as the patient with steroid-refractory polyarteritis nodosa developed cranial pachymeningitis related to IvIg therapy. To our knowledge, this is the first reported case of cranial pachymeningitis complicating IvIg therapy. Our findings emphasize the importance of recognizing IvIg-related neurological complications in IvIg-treated patients. As cranial pachymeningitis is a fibrosing process, both recognition and management at an early stage are required to prevent definite neurological impairment in patients.