Pulmonary complications of type 1 neurofibromatosis

Abstract

Introduction: Type 1 neurofibromatosis is one of the most common genetic diseases, with an incidence of 1/3500 live births. Its diagnosis primarily relies on the clinical features of the condition.

Current knowledge: The life expectancy of these patients is reduced by 10 years, on average, compared to the general population. Type 1 neurofibromatosis has been shown to increase the risk of various types of neoplasia, primarily those affecting the neural crest. In addition, interstitial lung disease, lung cancer, and pulmonary hypertension have been observed during the third or the fourth decade of an adult's life.

Perspectives: There are only few case reports available that address the pulmonary complications of neurofibromatosis type 1. It is thus crucial to fully understand this rare disease and its potential complications in order to allow for early diagnosis so we are able to improve the quality of life and survival of those suffering from the condition.

Conclusions: The pulmonary complications of type 1 neurofibromatosis can be severe and life-threatening. Patients with this condition should thus undergo regular clinical visits and examinations to allow pulmonary complications to be detected and treatment to be initiated as early as possible.

Keywords: Cancer bronchique; Fibrose pulmonaire; Hypertension pulmonaire; Interstitial lung disease; Lung cancer; Neurofibromatose de type 1; Neurofibromatosis type 1; Pulmonary hypertension; Von Recklinghausen.