title: [Severe pulmonary involvement in the course of type 1 neurofibromatosis].
abstract: 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.
authors.affiliation: Service de pneumologie, centre hospitalier, 72000 Le Mans, France; Service de pneumologie, centre hospitalier et universitaire, 49000 Angers, France.
authors.forename: B
authors.initials: B
authors.lastname: Martignac
authors.affiliation: Service de pneumologie, centre hospitalier et universitaire, 49000 Angers, France; L'UNAM université, 49000 Angers, France. Electronic address: frgagnadoux@chu-angers.fr.
authors.forename: F
authors.initials: F
authors.lastname: Gagnadoux
authors.affiliation: Service de pneumologie, centre hospitalier et universitaire, 49000 Angers, France; L'UNAM université, 49000 Angers, France.
authors.forename: W
authors.initials: W
authors.lastname: Trzepizur
authors.affiliation: Service de dermatologie, centre hospitalier, 72000 Le Mans, France.
authors.forename: N
authors.initials: N
authors.lastname: Beneton
authors.affiliation: Service de cardiologie, centre hospitalier, 72000 Le Mans, France.
authors.forename: F
authors.initials: F
authors.lastname: Vinchon
authors.affiliation: Service de pneumologie, centre hospitalier, 72000 Le Mans, France.
authors.forename: A
authors.initials: A
authors.lastname: Paris
authors.affiliation: Service de pneumologie et soins intensifs, DHU « Thorax Innovation », Inserm UMR_S999, centre de référence de l'hypertension pulmonaire sévère, université Paris-Sud, hôpital de Bicêtre, AP-HP, 94270 Le Kremlin-Bicêtre, France.
authors.forename: D
authors.initials: D
authors.lastname: Montani
authors.affiliation: Service de pneumologie, centre hospitalier, 72000 Le Mans, France.
authors.forename: F
authors.initials: F
authors.lastname: Goupil
mesh_terms: D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000209:etiology*; D008175:Lung Neoplasms / Q000150:complications*; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications*; D012720:Severity of Illness Index
keywords: Cancer pulmonaire; Diffuse interstitial pneumonia; Hypertension pulmonaire; Lung cancer; Neurofibromatose de type 1; Neurofibromatosis type 1; Pneumopathie interstitielle diffuse; Pulmonary hypertension