Severe pulmonary involvement in the course of type 1 neurofibromatosis

• Published in: Revue des maladies respiratoires Vol. 31; no. 7; p. 621
• Main Authors: Martignac, B, Gagnadoux, F, Trzepizur, W, Beneton, N, Vinchon, F, Paris, A, Montani, D, Goupil, F
• Format: Journal Article
• Language: French
• Published: France 01.09.2014
• Subjects: Female; Humans; Lung Diseases - etiology; Lung Neoplasms - complications; Middle Aged; Neurofibromatosis 1 - complications; Severity of Illness Index; Diffuse interstitial pneumonia; Lung cancer; Neurofibromatose de type 1; Hypertension pulmonaire; Neurofibromatosis type 1; Cancer pulmonaire; Pneumopathie interstitielle diffuse; Pulmonary hypertension
• ISSN: 1776-2588
• DOI: 10.1016/j.rmr.2013.10.643

Type 1 neurofibromatosis (NF1) is a hereditary disease inherited as an autosomal dominant. Respiratory involvement is rare. We report the case of a woman suffering from NF1 with mutation of the corresponding gene and with respiratory involvement combining diffuse parenchymatous lesions, severe precapillary pulmonary hypertension and an enlarging, spiculated pulmonary nodule, very suspicious of malignancy, though histological examination was not possible on account of the patient's poor respiratory function. There was progressive deterioration of the patient's respiratory condition, leading to death, despite the introduction of oral therapy combining a phosphodiesterase 5 inhibitor and an endothelin receptor antagonist. Our case illustrates the development of multiple severe respiratory pathologies in the setting of NF1. The specific contribution of the NF1 gene mutation in the pathophysiology of these different pulmonary manifestations needs to be examined in detail.