Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients.

OBJECTIVE To identify the main clinical features associated with mortality in patients with neurofibromatosis 1. DESIGN Cohort study. SETTING Referral center for neurofibromatosis. PATIENTS Three hundred seventy-eight patients with neurofibromatosis 1 who had more than 1 year of follow-up in the center. MAIN OUTCOME MEASURES Mortality. Clinical features, especially dermatological, were evaluated as potential factors associated with mortality. RESULTS Factors associated independently with mortality were the presence of subcutaneous neurofibromas (odds ratio, 10.8; 95% confidence interval, 2.1-56.7; P<.001), the absence of cutaneous neurofibromas (odds ratio, 5.3; 95% confidence interval, 1.2-25.0; P =.03), and facial asymmetry (odds ratio, 11.4; 95% confidence interval, 2.6-50.2; P<.01). CONCLUSIONS Some features that can be found by a routine clinical examination are associated with mortality in patients with neurofibromatosis 1. Clinical follow-up should be focused on patients with subcutaneous neurofibromas and/or the absence of cutaneous neurofibromas and/or facial asymmetry.