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

Abstract

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.