Clinical presentation, course, and prognosis of patients with mixed connective tissue disease: A multicenter retrospective cohort.

OBJECTIVES: The objective of this study is to better characterize the features and outcomes of a large population of patients with mixed connective tissue disease (MCTD). METHODS: We performed an observational retrospective multicenter cohort study in France. Patients who fulfilled at least one diagnostic criterion set for MCTD and none of the criteria for other differentiated CTD (dCTD) were included. RESULTS: Three hundred and thirty patients (88% females, median [interquartile range] age of 35 years [26-45]) were included. The diagnostic criteria of Sharp or Kasukawa were met by 97.3% and 93.3% of patients, respectively. None met other classification criteria without fulfilling Sharp or Kasukawa criteria. After a median follow-up of 8 (3-14) years, 149 (45.2%) patients achieved remission, 92 (27.9%) had interstitial lung disease, 25 (7.6%) had pulmonary hypertension, and 18 (5.6%) died. Eighty-five (25.8%) patients progressed to a dCTD, mainly systemic sclerosis (15.8%) or systemic lupus erythematosus (10.6%). Median duration between diagnosis and progression to a dCTD was 5 (2-11) years. The presence at MCTD diagnosis of an abnormal pattern on nailfold capillaroscopy (odds ratio [OR] = 2.44, 95% confidence interval [95%CI] [1.11-5.58]) and parotid swelling (OR = 3.86, 95%CI [1.31-11.4]) were statistically associated with progression to a dCTD. Patients who did not progress to a dCTD were more likely to achieve remission at the last follow-up (51.8% vs. 25.9%). CONCLUSIONS: This study shows that MCTD is a distinct entity that can be classified using either Kasukawa or Sharp criteria, and that only 25.8% of patients progress to a dCTD during follow-up.

Mixed connective tissue disease in pregnancy: A case series and systematic literature review.

OBJECTIVE: To investigate the impact of medical and obstetric complications associated with mixed connective tissue disease (MCTD) in pregnancy. METHOD: We analyzed 68 pregnancies from a systematic literature review and 12 pregnancies affected by MCTD at our centre between 1986 and 2015 for medical and obstetric complications. RESULTS: During pregnancy 37.1% had active MCTD and 26.7% had relapsed. Maternal complications included caesarean section (31.1%, n = 19), preeclampsia (17.6%, n = 13), thromboembolism events, and death (2.5%, n = 2 for each). Fetal complications included prematurity (48.1%, n = 25), intrauterine growth restriction (38.3%, n = 19), and neonatal lupus (28.6%, n = 18, including chondrodysplasia punctata). More than half (n = 10) of the neonatal lupus cases were explained by anti-U1RNP only. The perinatal mortality rate was 17.7% (n = 14). Pregnant women with active disease had higher rates of prematurity (OR = 7.60; 95%CI [1.93; 29.95]) and perinatal death (OR = 16.83; 95%CI [1.90; 147.70]). CONCLUSION: MCTD in pregnancy puts women at risk of medical and obstetric complications, and disease activity probably increases this risk.

[A paraneoplastic Sharp syndrome reversible after resection of a benign schwannoma: a paraneoplastic syndrome?]. / Syndrome de Sharp réversible après l'ablation d'un schwannome bénin : un syndrome paranéoplasique ?

Paraneoplastic syndromes commonly occur in malignancies and often precede the first symptoms of the tumor. By definition, paraneoplastic syndromes are only associated with malignancies although some exceptions have been reported, occurring with benign tumors. We report a patient presenting with a clinical and serological Sharp syndrome, followed a few months later by a cervical schwannoma. Curative surgical resection of the mass resulted in a clinical and serological healing from the Sharp syndrome. To our knowledge, this is the first report of a benign schwannoma complicated by a possible paraneoplastic Sharp syndrome.