L Reviron-Rabec1, B Girerd2, A Seferian2, K Campbell1, S Brosseau1, E Bergot3, M Humbert2, G Zalcman4, D Montani5. 1. Service de pneumologie et oncologie thoracique, CHU de Caen, 14033 Caen, France; Centre régional de compétence des HTAP sévères, CHU de Caen, 14033 Caen, France. 2. Faculté de médecine, université Paris-Sud, 94270 Le Kremlin-Bicêtre, France; Service de pneumologie, centre de référence de l'hypertension pulmonaire sévère, DHU thorax innovation, hôpital Bicêtre, AP-HP, 94270 Le Kremlin-Bicêtre, France; Inserm UMR S999, LabEx LERMIT, centre chirurgical Marie-Lannelongue, 92350 Le Plessis-Robinson, France. 3. Service de pneumologie et oncologie thoracique, CHU de Caen, 14033 Caen, France; Centre régional de compétence des HTAP sévères, CHU de Caen, 14033 Caen, France; Université de Caen, 14033 Caen, France. 4. Service de pneumologie et oncologie thoracique, CHU de Caen, 14033 Caen, France; Centre régional de compétence des HTAP sévères, CHU de Caen, 14033 Caen, France; U830 Inserm, « Génétique et biologie des cancers » institut Curie et université Paris-Diderot (Paris 7), 75013 Paris, France. 5. Faculté de médecine, université Paris-Sud, 94270 Le Kremlin-Bicêtre, France; Service de pneumologie, centre de référence de l'hypertension pulmonaire sévère, DHU thorax innovation, hôpital Bicêtre, AP-HP, 94270 Le Kremlin-Bicêtre, France; Inserm UMR S999, LabEx LERMIT, centre chirurgical Marie-Lannelongue, 92350 Le Plessis-Robinson, France. Electronic address: david.montani@aphp.fr.
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.
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
Authors: Daniela Rodrigues; Hugo Oliveira; Carina Andrade; Luísa Carvalho; Susana Guimarães; Conceição Souto Moura; Ana Paula Vaz Journal: Respir Med Case Rep Date: 2018-03-17